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<meta name="keywords" content="C0023931, adair-dighton syndrome, classic non-deforming oi with blue sclerae, classic non-deforming osteogenesis imperfecta with blue sclerae, col1a1, disease or syndrome, disease, lobstein, disease, lobstein's, lobstein disease, lobstein's disease, lobsteins disease, mild osteogenesis imperfecta, non-deforming osteogenesis imperfecta, oi type 1, oi type 1a, oi, type 1, oi, type i, oi1, osteogenesis imperfecta tarda, osteogenesis imperfecta tardas, osteogenesis imperfecta type 1, osteogenesis imperfecta type 1 with dentinogenesis imperfecta, osteogenesis imperfecta type 1a, osteogenesis imperfecta type i, osteogenesis imperfecta with blue sclerae, osteogenesis imperfecta with opalescent teeth, osteogenesis imperfecta, type 1, osteogenesis imperfecta, type i, van de hoeve syndrome, van der hoeve syndrome, 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="COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Osteogenesis imperfecta type I (Concept Id: C0023931)
- MedGen - NCBI</title>
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<!--
UID=9799
ConceptID=C0023931
-->
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1295/bin/oi-Image001.gif" src-large="/books/NBK1295/bin/oi-Image001.jpg" /></a><br /><a href="/books/NBK1295/figure/oi.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1295/bin/oi-Image002.gif" src-large="/books/NBK1295/bin/oi-Image002.jpg" /></a><br /><a href="/books/NBK1295/figure/oi.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Osteogenesis imperfecta type I<span class="h1sub">(OI1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9799</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0023931</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>Classic Non-deforming Osteogenesis Imperfecta with Blue Sclerae; Lobstein disease; Lobstein's Disease; OI type 1; OI type 1A; OI, TYPE I; OI1; OSTEOGENESIS IMPERFECTA TARDA; Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 1 with dentinogenesis imperfecta; Osteogenesis imperfecta type 1A; OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE; Osteogenesis imperfecta with opalescent teeth</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Osteogenesis imperfecta type I (385482004); van de Hoeve syndrome (385482004)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="COL1A1 - ID: 1277 - NCBI Gene" href="/gene/1277" class="medgenPMinfo">COL1A1</a> (17q21.33)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008146" target="_blank">MONDO:0008146</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/166200" target="_blank">166200</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=216796">ORPHA216796</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>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1295" target="_blank">COL1A1/2 Osteogenesis Imperfecta</a></div><div>COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1295#oi.Summary" target="NBK1295">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.Diagnosis" target="NBK1295">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.Clinical_Characteristics" target="NBK1295">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.Genetically_Related_Allelic_Disorders" target="NBK1295">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.Differential_Diagnosis" target="NBK1295">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.Management" target="NBK1295">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.Genetic_Counseling" target="NBK1295">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.Resources" target="NBK1295">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.Molecular_Genetics" target="NBK1295">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.Chapter_Notes" target="NBK1295">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1295#oi.References" target="NBK1295">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Robert D Steiner  |  Donald Basel   <a href="/books/NBK1295" target="NBK1295" title="NCBI Bookshelf: COL1A1/2 Osteogenesis Imperfecta">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Osteogenesis imperfecta type I (OI1) is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae. In most cases, 'functional null' alleles of COL1A1 on chromosome 17 or COL1A2 on chromosome 7 lead to reduced amounts of normal collagen I.  <a target="_blank" href="http://www.omim.org/entry/166200">http://www.omim.org/entry/166200</a></div><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>
<div class="portlet mgSection" id="ID_102">
<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_362"><div><strong>Aortic aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>362</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)&#10;Click for more information.">C0003486</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/362">Feature record</a> | <a href="/medgen?term=%22Aortic%20aneurysm%22%5BClinical%20Features%5D%20OR%20362%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7671"><div><strong>Mitral valve prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7671</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)&#10;Click for more information.">C0026267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7671">Feature record</a> | <a href="/medgen?term=%22Mitral%20valve%20prolapse%22%5BClinical%20Features%5D%20OR%207671%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_808205"><div><strong>Growth abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>808205</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)&#10;Click for more information.">C0262361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/808205">Feature record</a> | <a href="/medgen?term=%22Growth%20abnormality%22%5BClinical%20Features%5D%20OR%20808205%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10508"><div><strong>Otosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10508</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)&#10;Click for more information.">C0029899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998).&#13; Genetic Heterogeneity of Otosclerosis&#13; The locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. Other loci associated with otosclerosis include OTSC2 (605727) on chromosome 7q; OTSC3 (608244) on chromosome 6p; OTSC4 (611571) on chromosome 16q; OTSC5 (608787) on chromosome 3q22-q24; OTSC7 (611572) on chromosome 6q13; OTSC8 (612096) on chromosome 9p13.1-q21.11; and OTSC10 (615589) on chromosome 1q41-q44.&#13; OTSC11 (620576) is caused by mutation in the FOXL1 gene (603252) on chromosome 16q24. OTSC12 (620792) is caused by mutation in the SMARCA4 gene (603254) on chromosome 19p13.&#13; The symbols OTSC6 and OTSC9 were reserved by the HUGO Gene Nomenclature Committee on January 30, 2003 and February 10, 2009, respectively, for as yet unpublished loci for otosclerosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10508">Feature record</a> | <a href="/medgen?term=%22Otosclerosis%22%5BClinical%20Features%5D%20OR%2010508%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_235586"><div><strong>Hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235586</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)&#10;Click for more information.">C1384666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A decreased magnitude of the sensory perception of sound.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/235586">Feature record</a> | <a href="/medgen?term=%22Hearing%20impairment%22%5BClinical%20Features%5D%20OR%20235586%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)&#10;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)&#10;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_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)&#10;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_154359"><div><strong>Finger joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154359</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)&#10;Click for more information.">C0574974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154359">Feature record</a> | <a href="/medgen?term=%22Finger%20joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20154359%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_234655"><div><strong>Increased susceptibility to fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234655</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)&#10;Click for more information.">C1390474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/234655">Feature record</a> | <a href="/medgen?term=%22Increased%20susceptibility%20to%20fractures%22%5BClinical%20Features%5D%20OR%20234655%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_318956"><div><strong>Biconcave flattened vertebrae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318956</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)&#10;Click for more information.">C1833753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318956">Feature record</a> | <a href="/medgen?term=%22Biconcave%20flattened%20vertebrae%22%5BClinical%20Features%5D%20OR%20318956%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)&#10;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_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)&#10;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_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)&#10;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_1640560"><div><strong>Developmental dysplasia of the hip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640560</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)&#10;Click for more information.">C4551649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000).&#13; Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006).&#13; CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970).&#13; Genetic Heterogeneity of Developmental Dysplasia of the Hip&#13; Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21.&#13; DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1640560">Feature record</a> | <a href="/medgen?term=%22Developmental%20dysplasia%20of%20the%20hip%22%5BClinical%20Features%5D%20OR%201640560%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1053471"><div><strong>Vertebra plana</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1053471</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN378402</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">he term given when a vertebral body has lost almost its entire height anteriorly and posteriorly, representing a very advanced compression fracture.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1053471">Feature record</a> | <a href="/medgen?term=%22Vertebra%20plana%22%5BClinical%20Features%5D%20OR%201053471%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140848"><div><strong>Thin skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140848</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)&#10;Click for more information.">C0423757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140848">Feature record</a> | <a href="/medgen?term=%22Thin%20skin%22%5BClinical%20Features%5D%20OR%20140848%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140849"><div><strong>Bruising susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140849</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)&#10;Click for more information.">C0423798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen?term=%22Bruising%20susceptibility%22%5BClinical%20Features%5D%20OR%20140849%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_154236"><div><strong>Blue sclerae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154236</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)&#10;Click for more information.">C0542514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal bluish coloration of the sclera.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154236">Feature record</a> | <a href="/medgen?term=%22Blue%20sclerae%22%5BClinical%20Features%5D%20OR%20154236%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic aneurysm</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral valve prolapse</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_154236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue sclerae</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruising susceptibility</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin skin</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_318956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biconcave flattened vertebrae</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_1640560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental dysplasia of the hip</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_154359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Finger joint hypermobility</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased susceptibility to fractures</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_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_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_1053471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebra plana</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">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing impairment</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otosclerosis</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_808205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth abnormality</a></span></li></ul></li></ul></div></div>
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<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>
<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]&amp;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&amp;from_uid=45246" ref="ncbi_uid=45246">V</a></span></span><span class="TLline"><a href="/medgen/45246" ref="tree=GTR&amp;ncbi_uid=45246&amp;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]&amp;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&amp;from_uid=419332" ref="ncbi_uid=419332">V</a></span></span><span class="TLline"><a href="/medgen/419332" ref="tree=GTR&amp;ncbi_uid=419332&amp;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]&amp;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&amp;from_uid=481194" ref="ncbi_uid=481194">V</a></span></span><span class="TLline"><a href="/medgen/481194" ref="tree=GTR&amp;ncbi_uid=481194&amp;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]&amp;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&amp;from_uid=343981" ref="ncbi_uid=343981">V</a></span></span><span class="TLline"><a href="/medgen/343981" ref="tree=GTR&amp;ncbi_uid=343981&amp;link_uid=343981" title="View MedGen record for 'Osteogenesis imperfecta type 7'">Osteogenesis imperfecta type 7</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=C1970458[DISCUI]&amp;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&amp;from_uid=410075" ref="ncbi_uid=410075">V</a></span></span><span class="TLline"><a href="/medgen/410075" ref="tree=GTR&amp;ncbi_uid=410075&amp;link_uid=410075" title="View MedGen record for 'Osteogenesis imperfecta type 8'">Osteogenesis imperfecta type 8</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=C1850169[DISCUI]&amp;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&amp;from_uid=376720" ref="ncbi_uid=376720">V</a></span></span><span class="TLline"><a href="/medgen/376720" ref="tree=GTR&amp;ncbi_uid=376720&amp;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]&amp;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&amp;from_uid=462561" ref="ncbi_uid=462561">V</a></span></span><span class="TLline"><a href="/medgen/462561" ref="tree=GTR&amp;ncbi_uid=462561&amp;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]&amp;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&amp;from_uid=462568" ref="ncbi_uid=462568">V</a></span></span><span class="TLline"><a href="/medgen/462568" ref="tree=GTR&amp;ncbi_uid=462568&amp;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]&amp;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&amp;from_uid=462783" ref="ncbi_uid=462783">V</a></span></span><span class="TLline"><a href="/medgen/462783" ref="tree=GTR&amp;ncbi_uid=462783&amp;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]&amp;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&amp;from_uid=766801" ref="ncbi_uid=766801">V</a></span></span><span class="TLline"><a href="/medgen/766801" ref="tree=GTR&amp;ncbi_uid=766801&amp;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]&amp;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&amp;from_uid=767342" ref="ncbi_uid=767342">V</a></span></span><span class="TLline"><a href="/medgen/767342" ref="tree=GTR&amp;ncbi_uid=767342&amp;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]&amp;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&amp;from_uid=815174" ref="ncbi_uid=815174">V</a></span></span><span class="TLline"><a href="/medgen/815174" ref="tree=GTR&amp;ncbi_uid=815174&amp;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]&amp;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&amp;from_uid=864047" ref="ncbi_uid=864047">V</a></span></span><span class="TLline"><a href="/medgen/864047" ref="tree=GTR&amp;ncbi_uid=864047&amp;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]&amp;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&amp;from_uid=903845" ref="ncbi_uid=903845">V</a></span></span><span class="TLline"><a href="/medgen/903845" ref="tree=GTR&amp;ncbi_uid=903845&amp;link_uid=903845" title="View MedGen record for 'Osteogenesis imperfecta type 17'">Osteogenesis imperfecta type 17</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=C0023931[DISCUI]&amp;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&amp;from_uid=9799" ref="ncbi_uid=9799">V</a></span></span><span class="TLline">Osteogenesis imperfecta type I</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]&amp;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&amp;from_uid=78664" ref="ncbi_uid=78664">V</a></span></span><span class="TLline"><a href="/medgen/78664" ref="tree=GTR&amp;ncbi_uid=78664&amp;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]&amp;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&amp;from_uid=78665" ref="ncbi_uid=78665">V</a></span></span><span class="TLline"><a href="/medgen/78665" ref="tree=GTR&amp;ncbi_uid=78665&amp;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]&amp;test_type=Clinical&amp;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&amp;from_uid=1801631" ref="ncbi_uid=1801631">V</a></span></span><span class="TLline"><a href="/medgen/1801631" ref="tree=GTR&amp;ncbi_uid=1801631&amp;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]&amp;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&amp;from_uid=75673" ref="ncbi_uid=75673">V</a></span></span><span class="TLline"><a href="/medgen/75673" ref="tree=GTR&amp;ncbi_uid=75673&amp;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]&amp;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&amp;from_uid=1635201" ref="ncbi_uid=1635201">V</a></span></span><span class="TLline"><a href="/medgen/1635201" ref="tree=GTR&amp;ncbi_uid=1635201&amp;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]&amp;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&amp;from_uid=1648353" ref="ncbi_uid=1648353">V</a></span></span><span class="TLline"><a href="/medgen/1648353" ref="tree=GTR&amp;ncbi_uid=1648353&amp;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]&amp;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&amp;from_uid=1684751" ref="ncbi_uid=1684751">V</a></span></span><span class="TLline"><a href="/medgen/1684751" ref="tree=GTR&amp;ncbi_uid=1684751&amp;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]&amp;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&amp;from_uid=1723598" ref="ncbi_uid=1723598">V</a></span></span><span class="TLline"><a href="/medgen/1723598" ref="tree=GTR&amp;ncbi_uid=1723598&amp;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&amp;from_uid=1846121" ref="ncbi_uid=1846121">V</a></span></span><span class="TLline"><a href="/medgen/1846121" ref="tree=GTR&amp;ncbi_uid=1846121&amp;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 I</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/26781260">Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cozzolino M,
Perelli F,
Maggio L,
Coccia ME,
Quaranta M,
Gizzo S,
Mecacci F</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2016 Jun;293(6):1153-9.
Epub 2016 Jan 18
doi: 10.1007/s00404-016-4012-2.
<span class="bold">PMID: </span><a href="/pubmed/26781260" target="_blank">26781260</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8804334">Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Antoniazzi F,
Bertoldo F,
Mottes M,
Valli M,
Sirpresi S,
Zamboni G,
Valentini R,
Tató L</span><br />
<span class="medgenPMjournal">J Pediatr</span>
1996 Sep;129(3):432-9.
doi: 10.1016/s0022-3476(96)70077-x.
<span class="bold">PMID: </span><a href="/pubmed/8804334" target="_blank">8804334</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22osteogenesis%20imperfecta%20type%20i%22%5Btiab%3A~0%5D)%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 (2)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.orpha.net/data/patho/Pro/en/Emergency_OsteogenesisImperfecta.pdf" target="_blank">Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)</a></h3>
</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/31393309">Gait Deviations in Children With Osteogenesis Imperfecta Type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garman CR,
Graf A,
Krzak J,
Caudill A,
Smith P,
Harris G</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2019 Sep;39(8):e641-e646.
doi: 10.1097/BPO.0000000000001062.
<span class="bold">PMID: </span><a href="/pubmed/31393309" target="_blank">31393309</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28433416">Static Postural Control in Youth With Osteogenesis Imperfecta Type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pouliot-Laforte A,
Lemay M,
Rauch F,
Veilleux LN</span><br />
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
2017 Oct;98(10):1948-1954.
Epub 2017 Apr 19
doi: 10.1016/j.apmr.2017.03.018.
<span class="bold">PMID: </span><a href="/pubmed/28433416" target="_blank">28433416</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26781260">Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cozzolino M,
Perelli F,
Maggio L,
Coccia ME,
Quaranta M,
Gizzo S,
Mecacci F</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2016 Jun;293(6):1153-9.
Epub 2016 Jan 18
doi: 10.1007/s00404-016-4012-2.
<span class="bold">PMID: </span><a href="/pubmed/26781260" target="_blank">26781260</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24088043">PLS3 mutations in X-linked osteoporosis with fractures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Dijk FS,
Zillikens MC,
Micha D,
Riessland M,
Marcelis CL,
de Die-Smulders CE,
Milbradt J,
Franken AA,
Harsevoort AJ,
Lichtenbelt KD,
Pruijs HE,
Rubio-Gozalbo ME,
Zwertbroek R,
Moutaouakil Y,
Egthuijsen J,
Hammerschmidt M,
Bijman R,
Semeins CM,
Bakker AD,
Everts V,
Klein-Nulend J,
Campos-Obando N,
Hofman A,
te Meerman GJ,
Verkerk AJ,
Uitterlinden AG,
Maugeri A,
Sistermans EA,
Waisfisz Q,
Meijers-Heijboer H,
Wirth B,
Simon ME,
Pals G</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2013 Oct 17;369(16):1529-36.
Epub 2013 Oct 2
doi: 10.1056/NEJMoa1308223.
<span class="bold">PMID: </span><a href="/pubmed/24088043" target="_blank">24088043</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9228859">Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garretsen AJ,
Cremers CW,
Huygén PL</span><br />
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
1997 Jul;106(7 Pt 1):575-82.
doi: 10.1177/000348949710600709.
<span class="bold">PMID: </span><a href="/pubmed/9228859" target="_blank">9228859</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%20I%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 (34)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35855543">Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niu Z,
Lai Y,
Zhou W,
Liu L,
Tan S,
He G,
Li J,
Tang F,
Su Y,
Xu Y,
Liu L,
Xie L,
Fang Q,
Tang A</span><br />
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
2022 Sep;10(9):e2019.
Epub 2022 Jul 19
doi: 10.1002/mgg3.2019.
<span class="bold">PMID: </span><a href="/pubmed/35855543" target="_blank">35855543</a><a href="/pmc/articles/PMC9482389" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31072201">Otoscopic Manifestations of Osteogenesis Imperfecta Type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Azmy MC,
Kandinov A,
Patel TD,
Jyung RW</span><br />
<span class="medgenPMjournal">Ear Nose Throat J</span>
2020 Jan;99(1):30-31.
Epub 2019 May 9
doi: 10.1177/0145561319842512.
<span class="bold">PMID: </span><a href="/pubmed/31072201" target="_blank">31072201</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27059743">Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoefele J,
Mayer K,
Marschall C,
Alberer M,
Klein HG,
Kirschstein M</span><br />
<span class="medgenPMjournal">World J Pediatr</span>
2016 Nov;12(4):501-503.
Epub 2016 Apr 8
doi: 10.1007/s12519-016-0014-1.
<span class="bold">PMID: </span><a href="/pubmed/27059743" target="_blank">27059743</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26781260">Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cozzolino M,
Perelli F,
Maggio L,
Coccia ME,
Quaranta M,
Gizzo S,
Mecacci F</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2016 Jun;293(6):1153-9.
Epub 2016 Jan 18
doi: 10.1007/s00404-016-4012-2.
<span class="bold">PMID: </span><a href="/pubmed/26781260" target="_blank">26781260</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24088043">PLS3 mutations in X-linked osteoporosis with fractures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Dijk FS,
Zillikens MC,
Micha D,
Riessland M,
Marcelis CL,
de Die-Smulders CE,
Milbradt J,
Franken AA,
Harsevoort AJ,
Lichtenbelt KD,
Pruijs HE,
Rubio-Gozalbo ME,
Zwertbroek R,
Moutaouakil Y,
Egthuijsen J,
Hammerschmidt M,
Bijman R,
Semeins CM,
Bakker AD,
Everts V,
Klein-Nulend J,
Campos-Obando N,
Hofman A,
te Meerman GJ,
Verkerk AJ,
Uitterlinden AG,
Maugeri A,
Sistermans EA,
Waisfisz Q,
Meijers-Heijboer H,
Wirth B,
Simon ME,
Pals G</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2013 Oct 17;369(16):1529-36.
Epub 2013 Oct 2
doi: 10.1056/NEJMoa1308223.
<span class="bold">PMID: </span><a href="/pubmed/24088043" target="_blank">24088043</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%20I%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 (36)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36203124">Anthropometrics of Polish children with osteogenesis imperfecta: a single-centre retrospective cohort study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jakubowska-Pietkiewicz E,
Maćkowska A,
Nowicki J,
Woźniak E,
Jakub N</span><br />
<span class="medgenPMjournal">BMC Pediatr</span>
2022 Oct 6;22(1):577.
doi: 10.1186/s12887-022-03621-7.
<span class="bold">PMID: </span><a href="/pubmed/36203124" target="_blank">36203124</a><a href="/pmc/articles/PMC9535875" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23907723">Teriparatide treatment in adult patients with osteogenesis imperfecta type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gatti D,
Rossini M,
Viapiana O,
Povino MR,
Liuzza S,
Fracassi E,
Idolazzi L,
Adami S</span><br />
<span class="medgenPMjournal">Calcif Tissue Int</span>
2013 Nov;93(5):448-52.
Epub 2013 Aug 2
doi: 10.1007/s00223-013-9770-2.
<span class="bold">PMID: </span><a href="/pubmed/23907723" target="_blank">23907723</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21739105">Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bradbury LA,
Barlow S,
Geoghegan F,
Hannon RA,
Stuckey SL,
Wass JA,
Russell RG,
Brown MA,
Duncan EL</span><br />
<span class="medgenPMjournal">Osteoporos Int</span>
2012 Jan;23(1):285-94.
Epub 2011 Jul 8
doi: 10.1007/s00198-011-1658-2.
<span class="bold">PMID: </span><a href="/pubmed/21739105" target="_blank">21739105</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15988801">Efficacy of oral etidronate for skeletal diseases in Japan.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Iwamoto J,
Takeda T,
Sato Y</span><br />
<span class="medgenPMjournal">Yonsei Med J</span>
2005 Jun 30;46(3):313-20.
doi: 10.3349/ymj.2005.46.3.313.
<span class="bold">PMID: </span><a href="/pubmed/15988801" target="_blank">15988801</a><a href="/pmc/articles/PMC2815806" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9228859">Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garretsen AJ,
Cremers CW,
Huygén PL</span><br />
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
1997 Jul;106(7 Pt 1):575-82.
doi: 10.1177/000348949710600709.
<span class="bold">PMID: </span><a href="/pubmed/9228859" target="_blank">9228859</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%20I%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/21739105">Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bradbury LA,
Barlow S,
Geoghegan F,
Hannon RA,
Stuckey SL,
Wass JA,
Russell RG,
Brown MA,
Duncan EL</span><br />
<span class="medgenPMjournal">Osteoporos Int</span>
2012 Jan;23(1):285-94.
Epub 2011 Jul 8
doi: 10.1007/s00198-011-1658-2.
<span class="bold">PMID: </span><a href="/pubmed/21739105" target="_blank">21739105</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16786509">Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pollitt R,
McMahon R,
Nunn J,
Bamford R,
Afifi A,
Bishop N,
Dalton A</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2006 Jul;27(7):716.
doi: 10.1002/humu.9430.
<span class="bold">PMID: </span><a href="/pubmed/16786509" target="_blank">16786509</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12923858">Double heterozygosity in bone growth disorders: four new observations and review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flynn MA,
Pauli RM</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2003 Sep 1;121A(3):193-208.
doi: 10.1002/ajmg.a.20143.
<span class="bold">PMID: </span><a href="/pubmed/12923858" target="_blank">12923858</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10942108">Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Vos A,
Sermon K,
Van de Velde H,
Joris H,
Vandervorst M,
Lissens W,
De Paepe A,
Liebaers I,
Van Steirteghem A</span><br />
<span class="medgenPMjournal">Hum Genet</span>
2000 Jun;106(6):605-13.
doi: 10.1007/s004390000298.
<span class="bold">PMID: </span><a href="/pubmed/10942108" target="_blank">10942108</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8456806">Molecular heterogeneity in osteogenesis imperfecta type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Willing MC,
Pruchno CJ,
Byers PH</span><br />
<span class="medgenPMjournal">Am J Med Genet</span>
1993 Jan 15;45(2):223-7.
doi: 10.1002/ajmg.1320450214.
<span class="bold">PMID: </span><a href="/pubmed/8456806" target="_blank">8456806</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%20I%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/31393309">Gait Deviations in Children With Osteogenesis Imperfecta Type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garman CR,
Graf A,
Krzak J,
Caudill A,
Smith P,
Harris G</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2019 Sep;39(8):e641-e646.
doi: 10.1097/BPO.0000000000001062.
<span class="bold">PMID: </span><a href="/pubmed/31393309" target="_blank">31393309</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27059743">Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoefele J,
Mayer K,
Marschall C,
Alberer M,
Klein HG,
Kirschstein M</span><br />
<span class="medgenPMjournal">World J Pediatr</span>
2016 Nov;12(4):501-503.
Epub 2016 Apr 8
doi: 10.1007/s12519-016-0014-1.
<span class="bold">PMID: </span><a href="/pubmed/27059743" target="_blank">27059743</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26478226">Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bardai G,
Lemyre E,
Moffatt P,
Palomo T,
Glorieux FH,
Tung J,
Ward L,
Rauch F</span><br />
<span class="medgenPMjournal">Calcif Tissue Int</span>
2016 Jan;98(1):76-84.
doi: 10.1007/s00223-015-0066-6.
<span class="bold">PMID: </span><a href="/pubmed/26478226" target="_blank">26478226</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23907723">Teriparatide treatment in adult patients with osteogenesis imperfecta type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gatti D,
Rossini M,
Viapiana O,
Povino MR,
Liuzza S,
Fracassi E,
Idolazzi L,
Adami S</span><br />
<span class="medgenPMjournal">Calcif Tissue Int</span>
2013 Nov;93(5):448-52.
Epub 2013 Aug 2
doi: 10.1007/s00223-013-9770-2.
<span class="bold">PMID: </span><a href="/pubmed/23907723" target="_blank">23907723</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9228859">Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garretsen AJ,
Cremers CW,
Huygén PL</span><br />
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
1997 Jul;106(7 Pt 1):575-82.
doi: 10.1177/000348949710600709.
<span class="bold">PMID: </span><a href="/pubmed/9228859" target="_blank">9228859</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%20I%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 (33)</a></div></div>
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<div class="portlet_content ln">
<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,
Caba L,
Mozos I,
Stoian D,
Atasie D,
Gug M,
Gorduza EV</span><br />
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%20type%20I%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 (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0023931%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (52)</a></li>
<li><a href="/gtr/tests?term=C0023931%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
<li><a href="/gtr/tests?term=C0023931%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (79)</a></li>
<li><a href="/gtr/tests?term=C0023931%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (30)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0023931%5bDISCUI%5d" target="_blank">See all (91)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=166200" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=216796" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Osteogenesis%20imperfecta%20type%20I" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22osteogenesis%20imperfecta%20type%20i%22%5Btiab%3A~0%5D)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Osteogenesis%20imperfecta%20type%20I%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.orpha.net/data/patho/Pro/en/Emergency_OsteogenesisImperfecta.pdf">Orphanet, 2008</a><div>Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Osteogenesis+imperfecta+type+1/5454" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/osteogenesis_imperfecta_type_i_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Osteogenesis%20imperfecta%20type%20I" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/8694/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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