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<meta name="keywords" content="C1970458, disease or syndrome, lepre1-related osteogenesis imperfecta, oi type viii, oi, type 8, oi, type 8 osteogenesis imperfecta, type 8, oi, type viii, oi, type viii osteogenesis imperfecta, type viii, oi8, oi8 osteogenesis imperfecta 8, osteogenesis imperfecta caused by mutation in p3h1, osteogenesis imperfecta type 8, osteogenesis imperfecta type viii, osteogenesis imperfecta, type 8, osteogenesis imperfecta, type viii, p3h1, p3h1 osteogenesis imperfecta, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=410075
|
||
ConceptID=C1970458
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Osteogenesis imperfecta type 8<span class="h1sub">(OI8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410075</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1970458</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>LEPRE1-Related Osteogenesis Imperfecta; OI type VIII; OI8; Osteogenesis Imperfecta Type VIII</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="P3H1 - ID: 64175 - NCBI Gene" href="/gene/64175" class="medgenPMinfo">P3H1</a> (1p34.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012581" target="_blank">MONDO:0012581</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610915" target="_blank">610915</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.<br /><br />There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.<br /><br />The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.<br /><br />Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth. <a target="_blank" href="https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta">https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta</a></div></div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_332360"><div><strong>Tibial bowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332360</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bending or abnormal curvature of the tibia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332360">Feature record</a> | <a href="/medgen?term=%22Tibial%20bowing%22%5BClinical%20Features%5D%20OR%20332360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375866"><div><strong>Femoral retroversion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375866</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375866">Feature record</a> | <a href="/medgen?term=%22Femoral%20retroversion%22%5BClinical%20Features%5D%20OR%20375866%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347136"><div><strong>Radial bowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347136</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bending or abnormal curvature of the radius.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347136">Feature record</a> | <a href="/medgen?term=%22Radial%20bowing%22%5BClinical%20Features%5D%20OR%20347136%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342370"><div><strong>Disproportionate short-limb short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342370</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342370">Feature record</a> | <a href="/medgen?term=%22Disproportionate%20short-limb%20short%20stature%22%5BClinical%20Features%5D%20OR%20342370%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8313"><div><strong>Dentinogenesis imperfecta</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8313</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental dysplasia of dentin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8313">Feature record</a> | <a href="/medgen?term=%22Dentinogenesis%20imperfecta%22%5BClinical%20Features%5D%20OR%208313%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42094"><div><strong>Recurrent fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42094</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0016655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Recurrent%20fractures%22%5BClinical%20Features%5D%20OR%2042094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6817"><div><strong>Inguinal hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6817</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the contents of the abdominal cavity through the inguinal canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6817">Feature record</a> | <a href="/medgen?term=%22Inguinal%20hernia%22%5BClinical%20Features%5D%20OR%206817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44042"><div><strong>Kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44042</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exaggerated anterior convexity of the thoracic vertebral column.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44042">Feature record</a> | <a href="/medgen?term=%22Kyphosis%22%5BClinical%20Features%5D%20OR%2044042%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75497"><div><strong>Vertebral compression fracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75497</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0262431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75497">Feature record</a> | <a href="/medgen?term=%22Vertebral%20compression%20fracture%22%5BClinical%20Features%5D%20OR%2075497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120497"><div><strong>Barrel-shaped chest</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120497</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0264172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120497">Feature record</a> | <a href="/medgen?term=%22Barrel-shaped%20chest%22%5BClinical%20Features%5D%20OR%20120497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98095"><div><strong>Thin ribs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98095</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0426818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ribs with a reduced diameter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98095">Feature record</a> | <a href="/medgen?term=%22Thin%20ribs%22%5BClinical%20Features%5D%20OR%2098095%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_609330"><div><strong>Decreased skull ossification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>609330</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0432073</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the magnitude or amount of ossification of the skull.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/609330">Feature record</a> | <a href="/medgen?term=%22Decreased%20skull%20ossification%22%5BClinical%20Features%5D%20OR%20609330%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331446"><div><strong>Slender long bone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331446</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced diameter of a long bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331446">Feature record</a> | <a href="/medgen?term=%22Slender%20long%20bone%22%5BClinical%20Features%5D%20OR%20331446%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322270"><div><strong>Decreased calvarial ossification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322270</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322270">Feature record</a> | <a href="/medgen?term=%22Decreased%20calvarial%20ossification%22%5BClinical%20Features%5D%20OR%20322270%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335010"><div><strong>Platyspondyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335010</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A flattened vertebral body shape with reduced distance between the vertebral endplates.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335010">Feature record</a> | <a href="/medgen?term=%22Platyspondyly%22%5BClinical%20Features%5D%20OR%20335010%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377844"><div><strong>Multiple prenatal fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377844</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853171</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of bone fractures in the prenatal period that are diagnosed at birth or before.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377844">Feature record</a> | <a href="/medgen?term=%22Multiple%20prenatal%20fractures%22%5BClinical%20Features%5D%20OR%20377844%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347888"><div><strong>Femoral bowing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347888</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bowing (abnormal curvature) of the femur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347888">Feature record</a> | <a href="/medgen?term=%22Femoral%20bowing%22%5BClinical%20Features%5D%20OR%20347888%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400926"><div><strong>Wide anterior fontanel</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400926</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the anterior fontanelle with respect to age-dependent norms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400926">Feature record</a> | <a href="/medgen?term=%22Wide%20anterior%20fontanel%22%5BClinical%20Features%5D%20OR%20400926%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_370919"><div><strong>Type 1 collagen overmodification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370919</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370919">Feature record</a> | <a href="/medgen?term=%22Type%201%20collagen%20overmodification%22%5BClinical%20Features%5D%20OR%20370919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_766814"><div><strong>Wormian bones</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766814</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553900</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766814">Feature record</a> | <a href="/medgen?term=%22Wormian%20bones%22%5BClinical%20Features%5D%20OR%20766814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116087"><div><strong>Round face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116087</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The facial appearance is more circular than usual as viewed from the front.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116087">Feature record</a> | <a href="/medgen?term=%22Round%20face%22%5BClinical%20Features%5D%20OR%20116087%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41917"><div><strong>Proptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is protruding anterior to the plane of the face to a greater extent than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41917">Feature record</a> | <a href="/medgen?term=%22Proptosis%22%5BClinical%20Features%5D%20OR%2041917%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Round face</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Femoral retroversion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial bowing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tibial bowing</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proptosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Barrel-shaped chest</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased calvarial ossification</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_609330" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased skull ossification</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dentinogenesis imperfecta</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Femoral bowing</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inguinal hernia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple prenatal fractures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platyspondyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent fractures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slender long bone</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin ribs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type 1 collagen overmodification</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral compression fracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide anterior fontanel</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_766814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wormian bones</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342370" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disproportionate short-limb short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0029434[DISCUI]&test_type=Clinical" ref="ncbi_uid=45246">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=45246" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=45246">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=45246" ref="ncbi_uid=45246">V</a></span></span><span class="TLline"><a href="/medgen/45246" ref="tree=GTR&ncbi_uid=45246&link_uid=45246" title="View MedGen record for 'Osteogenesis imperfecta'">Osteogenesis imperfecta</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931093[DISCUI]&test_type=Clinical" ref="ncbi_uid=419332">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419332" target="_blank" href="/omim/610967">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419332" ref="ncbi_uid=419332">V</a></span></span><span class="TLline"><a href="/medgen/419332" ref="tree=GTR&ncbi_uid=419332&link_uid=419332" title="View MedGen record for 'Osteogenesis imperfecta type 5'">Osteogenesis imperfecta type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279564[DISCUI]&test_type=Clinical" ref="ncbi_uid=481194">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481194" target="_blank" href="/omim/172860">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481194" ref="ncbi_uid=481194">V</a></span></span><span class="TLline"><a href="/medgen/481194" ref="tree=GTR&ncbi_uid=481194&link_uid=481194" title="View MedGen record for 'Osteogenesis imperfecta type 6'">Osteogenesis imperfecta type 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853162[DISCUI]&test_type=Clinical" ref="ncbi_uid=343981">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343981" target="_blank" href="/omim/605497">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343981" ref="ncbi_uid=343981">V</a></span></span><span class="TLline"><a href="/medgen/343981" ref="tree=GTR&ncbi_uid=343981&link_uid=343981" title="View MedGen record for 'Osteogenesis imperfecta type 7'">Osteogenesis imperfecta type 7</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970458[DISCUI]&test_type=Clinical" ref="ncbi_uid=410075">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410075" target="_blank" href="/omim/610339">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410075" ref="ncbi_uid=410075">V</a></span></span><span class="TLline">Osteogenesis imperfecta type 8</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850169[DISCUI]&test_type=Clinical" ref="ncbi_uid=376720">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376720" target="_blank" href="/omim/123841">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376720" ref="ncbi_uid=376720">V</a></span></span><span class="TLline"><a href="/medgen/376720" ref="tree=GTR&ncbi_uid=376720&link_uid=376720" title="View MedGen record for 'Osteogenesis imperfecta type 9'">Osteogenesis imperfecta type 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151211[DISCUI]&test_type=Clinical" ref="ncbi_uid=462561">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462561" target="_blank" href="/omim/600943">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462561" ref="ncbi_uid=462561">V</a></span></span><span class="TLline"><a href="/medgen/462561" ref="tree=GTR&ncbi_uid=462561&link_uid=462561" title="View MedGen record for 'Osteogenesis imperfecta type 10'">Osteogenesis imperfecta type 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151218[DISCUI]&test_type=Clinical" ref="ncbi_uid=462568">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462568" target="_blank" href="/omim/607063">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462568" ref="ncbi_uid=462568">V</a></span></span><span class="TLline"><a href="/medgen/462568" ref="tree=GTR&ncbi_uid=462568&link_uid=462568" title="View MedGen record for 'Osteogenesis imperfecta type 11'">Osteogenesis imperfecta type 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151433[DISCUI]&test_type=Clinical" ref="ncbi_uid=462783">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462783" target="_blank" href="/omim/606633">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462783" ref="ncbi_uid=462783">V</a></span></span><span class="TLline"><a href="/medgen/462783" ref="tree=GTR&ncbi_uid=462783&link_uid=462783" title="View MedGen record for 'Osteogenesis imperfecta type 12'">Osteogenesis imperfecta type 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553887[DISCUI]&test_type=Clinical" ref="ncbi_uid=766801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766801" target="_blank" href="/omim/112264">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766801" ref="ncbi_uid=766801">V</a></span></span><span class="TLline"><a href="/medgen/766801" ref="tree=GTR&ncbi_uid=766801&link_uid=766801" title="View MedGen record for 'Osteogenesis imperfecta type 13'">Osteogenesis imperfecta type 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554428[DISCUI]&test_type=Clinical" ref="ncbi_uid=767342">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767342" target="_blank" href="/omim/611236">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767342" ref="ncbi_uid=767342">V</a></span></span><span class="TLline"><a href="/medgen/767342" ref="tree=GTR&ncbi_uid=767342&link_uid=767342" title="View MedGen record for 'Osteogenesis imperfecta type 14'">Osteogenesis imperfecta type 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808844[DISCUI]&test_type=Clinical" ref="ncbi_uid=815174">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815174" target="_blank" href="/omim/164820">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815174" ref="ncbi_uid=815174">V</a></span></span><span class="TLline"><a href="/medgen/815174" ref="tree=GTR&ncbi_uid=815174&link_uid=815174" title="View MedGen record for 'Osteogenesis imperfecta type 15'">Osteogenesis imperfecta type 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015610[DISCUI]&test_type=Clinical" ref="ncbi_uid=864047">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864047" target="_blank" href="/omim/616215">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=864047" ref="ncbi_uid=864047">V</a></span></span><span class="TLline"><a href="/medgen/864047" ref="tree=GTR&ncbi_uid=864047&link_uid=864047" title="View MedGen record for 'Osteogenesis imperfecta type 16'">Osteogenesis imperfecta type 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225301[DISCUI]&test_type=Clinical" ref="ncbi_uid=903845">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=903845" target="_blank" href="/omim/182120">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=903845" ref="ncbi_uid=903845">V</a></span></span><span class="TLline"><a href="/medgen/903845" ref="tree=GTR&ncbi_uid=903845&link_uid=903845" title="View MedGen record for 'Osteogenesis imperfecta type 17'">Osteogenesis imperfecta type 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0023931[DISCUI]&test_type=Clinical" ref="ncbi_uid=9799">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9799" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=9799">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9799" ref="ncbi_uid=9799">V</a></span></span><span class="TLline"><a href="/medgen/9799" ref="tree=GTR&ncbi_uid=9799&link_uid=9799" title="View MedGen record for 'Osteogenesis imperfecta type I'">Osteogenesis imperfecta type I</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268362[DISCUI]&test_type=Clinical" ref="ncbi_uid=78664">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78664" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=78664">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78664" ref="ncbi_uid=78664">V</a></span></span><span class="TLline"><a href="/medgen/78664" ref="tree=GTR&ncbi_uid=78664&link_uid=78664" title="View MedGen record for 'Osteogenesis imperfecta type III'">Osteogenesis imperfecta type III</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268363[DISCUI]&test_type=Clinical" ref="ncbi_uid=78665">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78665" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=78665">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78665" ref="ncbi_uid=78665">V</a></span></span><span class="TLline"><a href="/medgen/78665" ref="tree=GTR&ncbi_uid=78665&link_uid=78665" title="View MedGen record for 'Osteogenesis imperfecta with normal sclerae, dominant form'">Osteogenesis imperfecta with normal sclerae, dominant form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5676943[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1801631">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1801631" target="_blank" href="/omim/618788">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1801631" ref="ncbi_uid=1801631">V</a></span></span><span class="TLline"><a href="/medgen/1801631" ref="tree=GTR&ncbi_uid=1801631&link_uid=1801631" title="View MedGen record for 'Osteogenesis imperfecta, IIA 22'">Osteogenesis imperfecta, IIA 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268358[DISCUI]&test_type=Clinical" ref="ncbi_uid=75673">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75673" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=75673">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75673" ref="ncbi_uid=75673">V</a></span></span><span class="TLline"><a href="/medgen/75673" ref="tree=GTR&ncbi_uid=75673&link_uid=75673" title="View MedGen record for 'Osteogenesis imperfecta, perinatal lethal'">Osteogenesis imperfecta, perinatal lethal</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693736[DISCUI]&test_type=Clinical" ref="ncbi_uid=1635201">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1635201" target="_blank" href="/omim/611357">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1635201" ref="ncbi_uid=1635201">V</a></span></span><span class="TLline"><a href="/medgen/1635201" ref="tree=GTR&ncbi_uid=1635201&link_uid=1635201" title="View MedGen record for 'Osteogenesis imperfecta, type 18'">Osteogenesis imperfecta, type 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746956[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648353">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648353" target="_blank" href="/omim/300294">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648353" ref="ncbi_uid=1648353">V</a></span></span><span class="TLline"><a href="/medgen/1648353" ref="tree=GTR&ncbi_uid=1648353&link_uid=1648353" title="View MedGen record for 'Osteogenesis imperfecta, type 19'">Osteogenesis imperfecta, type 19</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5231439[DISCUI]&test_type=Clinical" ref="ncbi_uid=1684751">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1684751" target="_blank" href="/omim/607783">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1684751" ref="ncbi_uid=1684751">V</a></span></span><span class="TLline"><a href="/medgen/1684751" ref="tree=GTR&ncbi_uid=1684751&link_uid=1684751" title="View MedGen record for 'Osteogenesis imperfecta, type 20'">Osteogenesis imperfecta, type 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5436875[DISCUI]&test_type=Clinical" ref="ncbi_uid=1723598">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1723598" target="_blank" href="/omim/609024">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1723598" ref="ncbi_uid=1723598">V</a></span></span><span class="TLline"><a href="/medgen/1723598" ref="tree=GTR&ncbi_uid=1723598&link_uid=1723598" title="View MedGen record for 'Osteogenesis imperfecta, type 21'">Osteogenesis imperfecta, type 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1846121" target="_blank" href="/omim/612834">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1846121" ref="ncbi_uid=1846121">V</a></span></span><span class="TLline"><a href="/medgen/1846121" ref="tree=GTR&ncbi_uid=1846121&link_uid=1846121" title="View MedGen record for 'Osteogenesis imperfecta, type 23'">Osteogenesis imperfecta, type 23</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1098" ref="tree=MeSH" title="MedGen record for Connective tissue disorder">Connective tissue disorder</a></span><ul><li><span class="TLline"><a href="/medgen/473110" ref="tree=MeSH" title="MedGen record for Hereditary disorder of connective tissue">Hereditary disorder of connective tissue</a></span><ul><li><span class="TLline"><a href="/medgen/396965" ref="tree=MeSH" title="MedGen record for COL1A1 Associated Connective Tissue Disorder">COL1A1 Associated Connective Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/45246" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta">Osteogenesis imperfecta</a></span><ul><li><span class="matched_ds">Osteogenesis imperfecta type 8</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38702915">Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacCarrick G,
|
||
Aradhya S,
|
||
Bailey M,
|
||
Chu D,
|
||
Hunt A,
|
||
Izzo E,
|
||
Krakow D,
|
||
Mackenzie W,
|
||
Poll S,
|
||
Raggio C,
|
||
Shediac R,
|
||
White KK,
|
||
McLaughlin HM,
|
||
Seratti G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Sep;194(9):e63646.
|
||
Epub 2024 May 3
|
||
doi: 10.1002/ajmg.a.63646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38702915" target="_blank">38702915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37270749">Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin X,
|
||
Hu J,
|
||
Zhou B,
|
||
Zhang Q,
|
||
Jiang Y,
|
||
Wang O,
|
||
Xia W,
|
||
Xing X,
|
||
Li M</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2024 Jan;47(1):67-77.
|
||
Epub 2023 Jun 4
|
||
doi: 10.1007/s40618-023-02123-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37270749" target="_blank">37270749</a><a href="/pmc/articles/PMC10776744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25944380">Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindahl K,
|
||
Åström E,
|
||
Rubin CJ,
|
||
Grigelioniene G,
|
||
Malmgren B,
|
||
Ljunggren Ö,
|
||
Kindmark A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Aug;23(8):1042-50.
|
||
Epub 2015 May 6
|
||
doi: 10.1038/ejhg.2015.81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25944380" target="_blank">25944380</a><a href="/pmc/articles/PMC4795106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(osteogenesis%20imperfecta%20type%208)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (34)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39012717">Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glorieux FH,
|
||
Langdahl B,
|
||
Chapurlat R,
|
||
De Beur SJ,
|
||
Sutton VR,
|
||
Poole KES,
|
||
Dahir KM,
|
||
Orwoll ES,
|
||
Willie BM,
|
||
Mikolajewicz N,
|
||
Zimmermann E,
|
||
Hosseinitabatabaei S,
|
||
Ominsky MS,
|
||
Saville C,
|
||
Clancy J,
|
||
MacKinnon A,
|
||
Mistry A,
|
||
Javaid MK</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Sep 2;39(9):1215-1228.
|
||
doi: 10.1093/jbmr/zjae112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39012717" target="_blank">39012717</a><a href="/pmc/articles/PMC11371902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34169326">Collagen transport and related pathways in Osteogenesis Imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys L,
|
||
Storoni S,
|
||
Eekhoff M,
|
||
Elting M,
|
||
Wisse L,
|
||
Pals G,
|
||
Bravenboer N,
|
||
Maugeri A,
|
||
Micha D</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2021 Aug;140(8):1121-1141.
|
||
Epub 2021 Jun 24
|
||
doi: 10.1007/s00439-021-02302-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34169326" target="_blank">34169326</a><a href="/pmc/articles/PMC8263409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29619932">Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Folkestad L</span><br />
|
||
<span class="medgenPMjournal">Dan Med J</span>
|
||
2018 Apr;65(4)
|
||
<span class="bold">PMID: </span><a href="/pubmed/29619932" target="_blank">29619932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22089064">Premenopausal osteoporosis: how to treat?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martínez-Morillo M,
|
||
Grados D,
|
||
Holgado S</span><br />
|
||
<span class="medgenPMjournal">Reumatol Clin</span>
|
||
2012 Mar-Apr;8(2):93-7.
|
||
Epub 2011 Aug 6
|
||
doi: 10.1016/j.reuma.2011.05.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22089064" target="_blank">22089064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19021896">Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barron MJ,
|
||
McDonnell ST,
|
||
Mackie I,
|
||
Dixon MJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Nov 20;3:31.
|
||
doi: 10.1186/1750-1172-3-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19021896" target="_blank">19021896</a><a href="/pmc/articles/PMC2600777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%208%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (167)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39012717">Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glorieux FH,
|
||
Langdahl B,
|
||
Chapurlat R,
|
||
De Beur SJ,
|
||
Sutton VR,
|
||
Poole KES,
|
||
Dahir KM,
|
||
Orwoll ES,
|
||
Willie BM,
|
||
Mikolajewicz N,
|
||
Zimmermann E,
|
||
Hosseinitabatabaei S,
|
||
Ominsky MS,
|
||
Saville C,
|
||
Clancy J,
|
||
MacKinnon A,
|
||
Mistry A,
|
||
Javaid MK</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2024 Sep 2;39(9):1215-1228.
|
||
doi: 10.1093/jbmr/zjae112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39012717" target="_blank">39012717</a><a href="/pmc/articles/PMC11371902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38702915">Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacCarrick G,
|
||
Aradhya S,
|
||
Bailey M,
|
||
Chu D,
|
||
Hunt A,
|
||
Izzo E,
|
||
Krakow D,
|
||
Mackenzie W,
|
||
Poll S,
|
||
Raggio C,
|
||
Shediac R,
|
||
White KK,
|
||
McLaughlin HM,
|
||
Seratti G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Sep;194(9):e63646.
|
||
Epub 2024 May 3
|
||
doi: 10.1002/ajmg.a.63646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38702915" target="_blank">38702915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37270749">Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin X,
|
||
Hu J,
|
||
Zhou B,
|
||
Zhang Q,
|
||
Jiang Y,
|
||
Wang O,
|
||
Xia W,
|
||
Xing X,
|
||
Li M</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2024 Jan;47(1):67-77.
|
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Epub 2023 Jun 4
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<div class="nl"><a target="_blank" href="/pubmed/22089064">Premenopausal osteoporosis: how to treat?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Martínez-Morillo M,
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<div class="portlet_content ln"><span class="medgenPMauthor">Barron MJ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%208%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (134)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39012717">Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35113812">Targeting TGF-β for treatment of osteogenesis imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Song IW,
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Nagamani SC,
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Nguyen D,
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Grafe I,
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<div class="nl"><a target="_blank" href="/pubmed/29619932">Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Folkestad L</span><br />
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<span class="medgenPMjournal">Dan Med J</span>
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<span class="bold">PMID: </span><a href="/pubmed/29619932" target="_blank">29619932</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22089064">Premenopausal osteoporosis: how to treat?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Martínez-Morillo M,
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Grados D,
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Holgado S</span><br />
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<span class="medgenPMjournal">Reumatol Clin</span>
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2012 Mar-Apr;8(2):93-7.
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Epub 2011 Aug 6
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doi: 10.1016/j.reuma.2011.05.011.
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<span class="bold">PMID: </span><a href="/pubmed/22089064" target="_blank">22089064</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Prockop DJ,
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Colige A,
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<span class="bold">PMID: </span><a href="/pubmed/8122517" target="_blank">8122517</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%208%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (78)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37270749">Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lin X,
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Hu J,
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Zhang Q,
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Jiang Y,
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Xing X,
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Li M</span><br />
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<span class="medgenPMjournal">J Endocrinol Invest</span>
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2024 Jan;47(1):67-77.
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Epub 2023 Jun 4
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doi: 10.1007/s40618-023-02123-2.
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<span class="bold">PMID: </span><a href="/pubmed/37270749" target="_blank">37270749</a><a href="/pmc/articles/PMC10776744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34169326">Collagen transport and related pathways in Osteogenesis Imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Claeys L,
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Storoni S,
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Eekhoff M,
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Elting M,
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Wisse L,
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Pals G,
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Bravenboer N,
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Maugeri A,
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Micha D</span><br />
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<span class="medgenPMjournal">Hum Genet</span>
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2021 Aug;140(8):1121-1141.
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Epub 2021 Jun 24
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doi: 10.1007/s00439-021-02302-2.
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<span class="bold">PMID: </span><a href="/pubmed/34169326" target="_blank">34169326</a><a href="/pmc/articles/PMC8263409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28689307">Long-term follow-up in osteogenesis imperfecta type VI.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Trejo P,
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Palomo T,
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Montpetit K,
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Fassier F,
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Sato A,
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Glorieux FH,
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<span class="medgenPMjournal">Osteoporos Int</span>
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2017 Oct;28(10):2975-2983.
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Epub 2017 Jul 9
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<span class="bold">PMID: </span><a href="/pubmed/28689307" target="_blank">28689307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25944380">Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindahl K,
|
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Åström E,
|
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Rubin CJ,
|
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Grigelioniene G,
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Malmgren B,
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Ljunggren Ö,
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Kindmark A</span><br />
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25943292">Severe osteogenesis imperfecta Type-III and its challenging treatment in newborn and preschool children. A systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sinikumpu JJ,
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Ojaniemi M,
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Lehenkari P,
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Serlo W</span><br />
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Epub 2015 Apr 22
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<span class="bold">PMID: </span><a href="/pubmed/25943292" target="_blank">25943292</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%208%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (68)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/37270749">Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin X,
|
||
Hu J,
|
||
Zhou B,
|
||
Zhang Q,
|
||
Jiang Y,
|
||
Wang O,
|
||
Xia W,
|
||
Xing X,
|
||
Li M</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2024 Jan;47(1):67-77.
|
||
Epub 2023 Jun 4
|
||
doi: 10.1007/s40618-023-02123-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37270749" target="_blank">37270749</a><a href="/pmc/articles/PMC10776744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36339400">Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao D,
|
||
Liu Y,
|
||
Liu J,
|
||
Hu J,
|
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Zhang Q,
|
||
Wang O,
|
||
Jiang Y,
|
||
Xia W,
|
||
Xing X,
|
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Li M</span><br />
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
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2022;13:1004946.
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Epub 2022 Oct 20
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doi: 10.3389/fendo.2022.1004946.
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<span class="bold">PMID: </span><a href="/pubmed/36339400" target="_blank">36339400</a><a href="/pmc/articles/PMC9632612" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34169326">Collagen transport and related pathways in Osteogenesis Imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys L,
|
||
Storoni S,
|
||
Eekhoff M,
|
||
Elting M,
|
||
Wisse L,
|
||
Pals G,
|
||
Bravenboer N,
|
||
Maugeri A,
|
||
Micha D</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2021 Aug;140(8):1121-1141.
|
||
Epub 2021 Jun 24
|
||
doi: 10.1007/s00439-021-02302-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34169326" target="_blank">34169326</a><a href="/pmc/articles/PMC8263409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29619932">Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Folkestad L</span><br />
|
||
<span class="medgenPMjournal">Dan Med J</span>
|
||
2018 Apr;65(4)
|
||
<span class="bold">PMID: </span><a href="/pubmed/29619932" target="_blank">29619932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25944380">Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindahl K,
|
||
Åström E,
|
||
Rubin CJ,
|
||
Grigelioniene G,
|
||
Malmgren B,
|
||
Ljunggren Ö,
|
||
Kindmark A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Aug;23(8):1042-50.
|
||
Epub 2015 May 6
|
||
doi: 10.1038/ejhg.2015.81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25944380" target="_blank">25944380</a><a href="/pmc/articles/PMC4795106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%208%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (123)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39294450">Dental Abnormalities in Osteogenesis Imperfecta: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ventura L,
|
||
Verdonk SJE,
|
||
Zhytnik L,
|
||
Ridwan-Pramana A,
|
||
Gilijamse M,
|
||
Schreuder WH,
|
||
van Gelderen-Ziesemer KA,
|
||
Schoenmaker T,
|
||
Micha D,
|
||
Eekhoff EMW</span><br />
|
||
<span class="medgenPMjournal">Calcif Tissue Int</span>
|
||
2024 Nov;115(5):461-479.
|
||
Epub 2024 Sep 18
|
||
doi: 10.1007/s00223-024-01293-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39294450" target="_blank">39294450</a><a href="/pmc/articles/PMC11531448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32165296">Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gug C,
|
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Caba L,
|
||
Mozos I,
|
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Stoian D,
|
||
Atasie D,
|
||
Gug M,
|
||
Gorduza EV</span><br />
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||
<span class="medgenPMjournal">Gene</span>
|
||
2020 May 30;741:144565.
|
||
Epub 2020 Mar 10
|
||
doi: 10.1016/j.gene.2020.144565.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32165296" target="_blank">32165296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26100571">Heart disease in patients with osteogenesis imperfecta - A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashournia H,
|
||
Johansen FT,
|
||
Folkestad L,
|
||
Diederichsen AC,
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Brixen K</span><br />
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||
<span class="medgenPMjournal">Int J Cardiol</span>
|
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2015 Oct 1;196:149-57.
|
||
Epub 2015 Jun 14
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||
doi: 10.1016/j.ijcard.2015.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26100571" target="_blank">26100571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25943292">Severe osteogenesis imperfecta Type-III and its challenging treatment in newborn and preschool children. A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinikumpu JJ,
|
||
Ojaniemi M,
|
||
Lehenkari P,
|
||
Serlo W</span><br />
|
||
<span class="medgenPMjournal">Injury</span>
|
||
2015 Aug;46(8):1440-6.
|
||
Epub 2015 Apr 22
|
||
doi: 10.1016/j.injury.2015.04.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25943292" target="_blank">25943292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22913777">A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui Y,
|
||
Zhao H,
|
||
Liu Z,
|
||
Liu C,
|
||
Luan J,
|
||
Zhou X,
|
||
Han J</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2012 Aug 22;7:55.
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||
doi: 10.1186/1750-1172-7-55.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22913777" target="_blank">22913777</a><a href="/pmc/articles/PMC3492206" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%208%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
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|
||
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|
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|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
||
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1970458%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C1970458%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (36)</a></li>
|
||
<li><a href="/gtr/tests?term=C1970458%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (12)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1970458%5bDISCUI%5d" target="_blank">See all (40)</a></total></li>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca79a7f4a390645eac1c75">Osteogenesis imperfecta type 8</a>
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