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<meta name="keywords" content="C0029434, brittle bone disease, brittle bone syndrome, col1a1, col1a1/2-related osteogenesis imperfecta, col1a2, disease or syndrome, fragilitas ossium, glass bone disease, lobstein disease, lobstein's syndrome, oi, oi - osteogenesis imperfecta, ossiums, fragilitas, osteogenesis imperfecta, osteopsathyrosis, porak and durante disease, vrolik disease, vrolik's disease, 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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||
<!--
|
||
UID=45246
|
||
ConceptID=C0029434
|
||
-->
|
||
<!--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<span class="h1sub">(OI)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45246</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0029434</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>COL1A1/2-Related Osteogenesis Imperfecta; OI</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Osteogenesis imperfecta (78314001); Osteopsathyrosis (78314001); Fragilitas ossium (78314001); Brittle bone syndrome (78314001); Brittle bone disease (78314001); OI - Osteogenesis imperfecta (78314001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<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) 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="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive 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">Genes (locations):<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); <a target="_blank" title="COL1A2 - ID: 1278 - NCBI Gene" href="/gene/1278" class="medgenPMinfo">COL1A2</a> (7q21.3)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/387733">IFITM5</a>, <a target="_blank" href="/gene/121340">SP7</a>, <a target="_blank" href="/gene/90993">CREB3L1</a>, <a target="_blank" href="/gene/79879">CCDC134</a>, <a target="_blank" href="/gene/64175">P3H1</a>, <a target="_blank" href="/gene/60681">FKBP10</a>, <a target="_blank" href="/gene/55603">TENT5A</a>, <a target="_blank" href="/gene/55151">TMEM38B</a>, <a target="_blank" href="/gene/51360">MBTPS2</a>, <a target="_blank" href="/gene/23187">PHLDB1</a>, <a target="_blank" href="/gene/23184">MESD</a>, <a target="_blank" href="/gene/11014">KDELR2</a>, <a target="_blank" href="/gene/10491">CRTAP</a>, <a target="_blank" href="/gene/7471">WNT1</a>, <a target="_blank" href="/gene/6678">SPARC</a>, <a target="_blank" href="/gene/5479">PPIB</a>, <a target="_blank" href="/gene/5176">SERPINF1</a>, <a target="_blank" href="/gene/871">SERPINH1</a>, <a target="_blank" href="/gene/649">BMP1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019019" target="_blank">MONDO:0019019</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/120150" target="_blank">120150</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS166200" target="_blank">PS166200</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&Expert=666">ORPHA666</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_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>
|
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<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 />
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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>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><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.<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 />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 />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. <a target="_blank" href="https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta">https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0029434[DISCUI]&test_type=Clinical" ref="ncbi_uid=45246">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=45246" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=45246">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=45246" ref="ncbi_uid=45246">V</a></span></span><span class="TLline">Osteogenesis imperfecta</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931093[DISCUI]&test_type=Clinical" ref="ncbi_uid=419332">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419332" target="_blank" href="/omim/610967">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419332" ref="ncbi_uid=419332">V</a></span></span><span class="TLline"><a href="/medgen/419332" ref="tree=GTR&ncbi_uid=419332&link_uid=419332" title="View MedGen record for 'Osteogenesis imperfecta type 5'">Osteogenesis imperfecta type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279564[DISCUI]&test_type=Clinical" ref="ncbi_uid=481194">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481194" target="_blank" href="/omim/172860">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481194" ref="ncbi_uid=481194">V</a></span></span><span class="TLline"><a href="/medgen/481194" ref="tree=GTR&ncbi_uid=481194&link_uid=481194" title="View MedGen record for 'Osteogenesis imperfecta type 6'">Osteogenesis imperfecta type 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853162[DISCUI]&test_type=Clinical" ref="ncbi_uid=343981">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343981" target="_blank" href="/omim/605497">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343981" ref="ncbi_uid=343981">V</a></span></span><span class="TLline"><a href="/medgen/343981" ref="tree=GTR&ncbi_uid=343981&link_uid=343981" title="View MedGen record for 'Osteogenesis imperfecta type 7'">Osteogenesis imperfecta type 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970458[DISCUI]&test_type=Clinical" ref="ncbi_uid=410075">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410075" target="_blank" href="/omim/610339">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410075" ref="ncbi_uid=410075">V</a></span></span><span class="TLline"><a href="/medgen/410075" ref="tree=GTR&ncbi_uid=410075&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]&test_type=Clinical" ref="ncbi_uid=376720">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376720" target="_blank" href="/omim/123841">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376720" ref="ncbi_uid=376720">V</a></span></span><span class="TLline"><a href="/medgen/376720" ref="tree=GTR&ncbi_uid=376720&link_uid=376720" title="View MedGen record for 'Osteogenesis imperfecta type 9'">Osteogenesis imperfecta type 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151211[DISCUI]&test_type=Clinical" ref="ncbi_uid=462561">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462561" target="_blank" href="/omim/600943">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462561" ref="ncbi_uid=462561">V</a></span></span><span class="TLline"><a href="/medgen/462561" ref="tree=GTR&ncbi_uid=462561&link_uid=462561" title="View MedGen record for 'Osteogenesis imperfecta type 10'">Osteogenesis imperfecta type 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151218[DISCUI]&test_type=Clinical" ref="ncbi_uid=462568">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462568" target="_blank" href="/omim/607063">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462568" ref="ncbi_uid=462568">V</a></span></span><span class="TLline"><a href="/medgen/462568" ref="tree=GTR&ncbi_uid=462568&link_uid=462568" title="View MedGen record for 'Osteogenesis imperfecta type 11'">Osteogenesis imperfecta type 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151433[DISCUI]&test_type=Clinical" ref="ncbi_uid=462783">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462783" target="_blank" href="/omim/606633">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462783" ref="ncbi_uid=462783">V</a></span></span><span class="TLline"><a href="/medgen/462783" ref="tree=GTR&ncbi_uid=462783&link_uid=462783" title="View MedGen record for 'Osteogenesis imperfecta type 12'">Osteogenesis imperfecta type 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553887[DISCUI]&test_type=Clinical" ref="ncbi_uid=766801">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766801" target="_blank" href="/omim/112264">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766801" ref="ncbi_uid=766801">V</a></span></span><span class="TLline"><a href="/medgen/766801" ref="tree=GTR&ncbi_uid=766801&link_uid=766801" title="View MedGen record for 'Osteogenesis imperfecta type 13'">Osteogenesis imperfecta type 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3554428[DISCUI]&test_type=Clinical" ref="ncbi_uid=767342">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=767342" target="_blank" href="/omim/611236">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=767342" ref="ncbi_uid=767342">V</a></span></span><span class="TLline"><a href="/medgen/767342" ref="tree=GTR&ncbi_uid=767342&link_uid=767342" title="View MedGen record for 'Osteogenesis imperfecta type 14'">Osteogenesis imperfecta type 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3808844[DISCUI]&test_type=Clinical" ref="ncbi_uid=815174">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815174" target="_blank" href="/omim/164820">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815174" ref="ncbi_uid=815174">V</a></span></span><span class="TLline"><a href="/medgen/815174" ref="tree=GTR&ncbi_uid=815174&link_uid=815174" title="View MedGen record for 'Osteogenesis imperfecta type 15'">Osteogenesis imperfecta type 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015610[DISCUI]&test_type=Clinical" ref="ncbi_uid=864047">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=864047" target="_blank" href="/omim/616215">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=864047" ref="ncbi_uid=864047">V</a></span></span><span class="TLline"><a href="/medgen/864047" ref="tree=GTR&ncbi_uid=864047&link_uid=864047" title="View MedGen record for 'Osteogenesis imperfecta type 16'">Osteogenesis imperfecta type 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225301[DISCUI]&test_type=Clinical" ref="ncbi_uid=903845">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=903845" target="_blank" href="/omim/182120">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=903845" ref="ncbi_uid=903845">V</a></span></span><span class="TLline"><a href="/medgen/903845" ref="tree=GTR&ncbi_uid=903845&link_uid=903845" title="View MedGen record for 'Osteogenesis imperfecta type 17'">Osteogenesis imperfecta type 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0023931[DISCUI]&test_type=Clinical" ref="ncbi_uid=9799">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9799" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=9799">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9799" ref="ncbi_uid=9799">V</a></span></span><span class="TLline"><a href="/medgen/9799" ref="tree=GTR&ncbi_uid=9799&link_uid=9799" title="View MedGen record for 'Osteogenesis imperfecta type I'">Osteogenesis imperfecta type I</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268362[DISCUI]&test_type=Clinical" ref="ncbi_uid=78664">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78664" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=78664">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78664" ref="ncbi_uid=78664">V</a></span></span><span class="TLline"><a href="/medgen/78664" ref="tree=GTR&ncbi_uid=78664&link_uid=78664" title="View MedGen record for 'Osteogenesis imperfecta type III'">Osteogenesis imperfecta type III</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268363[DISCUI]&test_type=Clinical" ref="ncbi_uid=78665">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78665" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=78665">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78665" ref="ncbi_uid=78665">V</a></span></span><span class="TLline"><a href="/medgen/78665" ref="tree=GTR&ncbi_uid=78665&link_uid=78665" title="View MedGen record for 'Osteogenesis imperfecta with normal sclerae, dominant form'">Osteogenesis imperfecta with normal sclerae, dominant form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5676943[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1801631">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1801631" target="_blank" href="/omim/618788">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1801631" ref="ncbi_uid=1801631">V</a></span></span><span class="TLline"><a href="/medgen/1801631" ref="tree=GTR&ncbi_uid=1801631&link_uid=1801631" title="View MedGen record for 'Osteogenesis imperfecta, IIA 22'">Osteogenesis imperfecta, IIA 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268358[DISCUI]&test_type=Clinical" ref="ncbi_uid=75673">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75673" target="_blank" href="/omim/120150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1295/" ref="ncbi_uid=75673">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75673" ref="ncbi_uid=75673">V</a></span></span><span class="TLline"><a href="/medgen/75673" ref="tree=GTR&ncbi_uid=75673&link_uid=75673" title="View MedGen record for 'Osteogenesis imperfecta, perinatal lethal'">Osteogenesis imperfecta, perinatal lethal</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4693736[DISCUI]&test_type=Clinical" ref="ncbi_uid=1635201">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1635201" target="_blank" href="/omim/611357">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1635201" ref="ncbi_uid=1635201">V</a></span></span><span class="TLline"><a href="/medgen/1635201" ref="tree=GTR&ncbi_uid=1635201&link_uid=1635201" title="View MedGen record for 'Osteogenesis imperfecta, type 18'">Osteogenesis imperfecta, type 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4746956[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648353">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648353" target="_blank" href="/omim/300294">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648353" ref="ncbi_uid=1648353">V</a></span></span><span class="TLline"><a href="/medgen/1648353" ref="tree=GTR&ncbi_uid=1648353&link_uid=1648353" title="View MedGen record for 'Osteogenesis imperfecta, type 19'">Osteogenesis imperfecta, type 19</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5231439[DISCUI]&test_type=Clinical" ref="ncbi_uid=1684751">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1684751" target="_blank" href="/omim/607783">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1684751" ref="ncbi_uid=1684751">V</a></span></span><span class="TLline"><a href="/medgen/1684751" ref="tree=GTR&ncbi_uid=1684751&link_uid=1684751" title="View MedGen record for 'Osteogenesis imperfecta, type 20'">Osteogenesis imperfecta, type 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5436875[DISCUI]&test_type=Clinical" ref="ncbi_uid=1723598">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1723598" target="_blank" href="/omim/609024">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1723598" ref="ncbi_uid=1723598">V</a></span></span><span class="TLline"><a href="/medgen/1723598" ref="tree=GTR&ncbi_uid=1723598&link_uid=1723598" title="View MedGen record for 'Osteogenesis imperfecta, type 21'">Osteogenesis imperfecta, type 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1846121" target="_blank" href="/omim/612834">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1846121" ref="ncbi_uid=1846121">V</a></span></span><span class="TLline"><a href="/medgen/1846121" ref="tree=GTR&ncbi_uid=1846121&link_uid=1846121" title="View MedGen record for 'Osteogenesis imperfecta, type 23'">Osteogenesis imperfecta, type 23</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><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="matched_ds">Osteogenesis imperfecta</span><ul><li><span class="TLline"><a href="/medgen/419332" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 5">Osteogenesis imperfecta type 5</a></span></li><li><span class="TLline"><a href="/medgen/481194" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 6">Osteogenesis imperfecta type 6</a></span></li><li><span class="TLline"><a href="/medgen/343981" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 7">Osteogenesis imperfecta type 7</a></span></li><li><span class="TLline"><a href="/medgen/410075" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 8">Osteogenesis imperfecta type 8</a></span></li><li><span class="TLline"><a href="/medgen/376720" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 9">Osteogenesis imperfecta type 9</a></span></li><li><span class="TLline"><a href="/medgen/462561" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 10">Osteogenesis imperfecta type 10</a></span></li><li><span class="TLline"><a href="/medgen/462568" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 11">Osteogenesis imperfecta type 11</a></span></li><li><span class="TLline"><a href="/medgen/462783" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 12">Osteogenesis imperfecta type 12</a></span></li><li><span class="TLline"><a href="/medgen/766801" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 13">Osteogenesis imperfecta type 13</a></span></li><li><span class="TLline"><a href="/medgen/767342" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 14">Osteogenesis imperfecta type 14</a></span></li><li><span class="TLline"><a href="/medgen/815174" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 15">Osteogenesis imperfecta type 15</a></span></li><li><span class="TLline"><a href="/medgen/864047" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 16">Osteogenesis imperfecta type 16</a></span></li><li><span class="TLline"><a href="/medgen/903845" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type 17">Osteogenesis imperfecta type 17</a></span></li><li><span class="TLline"><a href="/medgen/9799" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type I">Osteogenesis imperfecta type I</a></span></li><li><span class="TLline"><a href="/medgen/78664" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta type III">Osteogenesis imperfecta type III</a></span></li><li><span class="TLline"><a href="/medgen/78665" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta with normal sclerae, dominant form">Osteogenesis imperfecta with normal sclerae, dominant form</a></span></li><li><span class="TLline"><a href="/medgen/1801631" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, IIA 22">Osteogenesis imperfecta, IIA 22</a></span></li><li><span class="TLline"><a href="/medgen/75673" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, perinatal lethal">Osteogenesis imperfecta, perinatal lethal</a></span></li><li><span class="TLline"><a href="/medgen/1635201" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 18">Osteogenesis imperfecta, type 18</a></span></li><li><span class="TLline"><a href="/medgen/1648353" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 19">Osteogenesis imperfecta, type 19</a></span></li><li><span class="TLline"><a href="/medgen/1684751" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 20">Osteogenesis imperfecta, type 20</a></span></li><li><span class="TLline"><a href="/medgen/1723598" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 21">Osteogenesis imperfecta, type 21</a></span></li><li><span class="TLline"><a href="/medgen/1846121" ref="tree=MeSH" title="MedGen record for Osteogenesis imperfecta, type 23">Osteogenesis imperfecta, type 23</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=654&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Osteogenesis imperfecta</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
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<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/38374961">A practical guide to the diagnosis and management of osteoporosis in childhood and adolescence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ward LM</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1266986.
|
||
Epub 2024 Jan 25
|
||
doi: 10.3389/fendo.2023.1266986.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38374961" target="_blank">38374961</a><a href="/pmc/articles/PMC10875302" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31693577">Osteogenesis imperfecta: advancements in genetics and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi V,
|
||
Lee B,
|
||
Marom R</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2019 Dec;31(6):708-715.
|
||
doi: 10.1097/MOP.0000000000000813.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31693577" target="_blank">31693577</a><a href="/pmc/articles/PMC7017716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28863000">Osteogenesis imperfecta: diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palomo T,
|
||
Vilaça T,
|
||
Lazaretti-Castro M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2017 Dec;24(6):381-388.
|
||
doi: 10.1097/MED.0000000000000367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28863000" target="_blank">28863000</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22osteogenesis%20imperfecta%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 (247)</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/34680126">Osteogenesis Imperfecta: Current and Prospective Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Botor M,
|
||
Fus-Kujawa A,
|
||
Uroczynska M,
|
||
Stepien KL,
|
||
Galicka A,
|
||
Gawron K,
|
||
Sieron AL</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2021 Oct 10;11(10)
|
||
doi: 10.3390/biom11101493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34680126" target="_blank">34680126</a><a href="/pmc/articles/PMC8533546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31693577">Osteogenesis imperfecta: advancements in genetics and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi V,
|
||
Lee B,
|
||
Marom R</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2019 Dec;31(6):708-715.
|
||
doi: 10.1097/MOP.0000000000000813.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31693577" target="_blank">31693577</a><a href="/pmc/articles/PMC7017716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26542481">Osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forlino A,
|
||
Marini JC</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2016 Apr 16;387(10028):1657-71.
|
||
Epub 2015 Nov 3
|
||
doi: 10.1016/S0140-6736(15)00728-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26542481" target="_blank">26542481</a><a href="/pmc/articles/PMC7384887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24715559">Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Dijk FS,
|
||
Sillence DO</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Jun;164A(6):1470-81.
|
||
Epub 2014 Apr 8
|
||
doi: 10.1002/ajmg.a.36545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24715559" target="_blank">24715559</a><a href="/pmc/articles/PMC4314691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3044330">Osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cole WG</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Endocrinol Metab</span>
|
||
1988 Feb;2(1):243-65.
|
||
doi: 10.1016/s0950-351x(88)80014-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3044330" target="_blank">3044330</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%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 (1279)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34068551">Current Overview of Osteogenesis Imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deguchi M,
|
||
Tsuji S,
|
||
Katsura D,
|
||
Kasahara K,
|
||
Kimura F,
|
||
Murakami T</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2021 May 10;57(5)
|
||
doi: 10.3390/medicina57050464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34068551" target="_blank">34068551</a><a href="/pmc/articles/PMC8151368" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32621590">Osteogenesis imperfecta: an update on clinical features and therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marom R,
|
||
Rabenhorst BM,
|
||
Morello R</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2020 Oct;183(4):R95-R106.
|
||
doi: 10.1530/EJE-20-0299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32621590" target="_blank">32621590</a><a href="/pmc/articles/PMC7694877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31693577">Osteogenesis imperfecta: advancements in genetics and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi V,
|
||
Lee B,
|
||
Marom R</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2019 Dec;31(6):708-715.
|
||
doi: 10.1097/MOP.0000000000000813.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31693577" target="_blank">31693577</a><a href="/pmc/articles/PMC7017716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/28863000">Osteogenesis imperfecta: diagnosis and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Palomo T,
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Vilaça T,
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Lazaretti-Castro M</span><br />
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<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
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2017 Dec;24(6):381-388.
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<div class="nl"><a target="_blank" href="/pubmed/27506061">Osteogenesis Imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Golshani KR,
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2016 Jun;88(6):178-85.
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<div class="nl"><a target="_blank" href="/pubmed/34068551">Current Overview of Osteogenesis Imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Deguchi M,
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Tsuji S,
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Katsura D,
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<div class="nl"><a target="_blank" href="/pubmed/31693577">Osteogenesis imperfecta: advancements in genetics and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rossi V,
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Lee B,
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Marom R</span><br />
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2019 Dec;31(6):708-715.
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<div class="nl"><a target="_blank" href="/pubmed/28863000">Osteogenesis imperfecta: diagnosis and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Palomo T,
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Vilaça T,
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Lazaretti-Castro M</span><br />
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2017 Dec;24(6):381-388.
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<span class="bold">PMID: </span><a href="/pubmed/28863000" target="_blank">28863000</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15110498">Osteogenesis imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rauch F,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%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 (778)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34169326">Collagen transport and related pathways in Osteogenesis Imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Claeys L,
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Storoni S,
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Eekhoff M,
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Elting M,
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Wisse L,
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Bravenboer N,
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2021 Aug;140(8):1121-1141.
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<span class="bold">PMID: </span><a href="/pubmed/34169326" target="_blank">34169326</a><a href="/pmc/articles/PMC8263409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34068551">Current Overview of Osteogenesis Imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deguchi M,
|
||
Tsuji S,
|
||
Katsura D,
|
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Kasahara K,
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Kimura F,
|
||
Murakami T</span><br />
|
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<span class="medgenPMjournal">Medicina (Kaunas)</span>
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2021 May 10;57(5)
|
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doi: 10.3390/medicina57050464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34068551" target="_blank">34068551</a><a href="/pmc/articles/PMC8151368" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34019743">Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stembalska A,
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Dudarewicz L,
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Śmigiel R</span><br />
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2021 Jun;30(6):641-647.
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doi: 10.17219/acem/134166.
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<span class="bold">PMID: </span><a href="/pubmed/34019743" target="_blank">34019743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30886339">Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maioli M,
|
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Gnoli M,
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Boarini M,
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Tremosini M,
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Zambrano A,
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Pedrini E,
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Mordenti M,
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Corsini S,
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D'Eufemia P,
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Versacci P,
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Celli M,
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Sangiorgi L</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2019 Jul;27(7):1090-1100.
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doi: 10.1038/s41431-019-0373-x.
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<span class="bold">PMID: </span><a href="/pubmed/30886339" target="_blank">30886339</a><a href="/pmc/articles/PMC6777444" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24715559">Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Van Dijk FS,
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Sillence DO</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2014 Jun;164A(6):1470-81.
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<span class="bold">PMID: </span><a href="/pubmed/24715559" target="_blank">24715559</a><a href="/pmc/articles/PMC4314691" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%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 (628)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36896471">COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Venable E,
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Knight DRT,
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Thoreson EK,
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Baudhuin LM</span><br />
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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2023 Jun;193(2):147-159.
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doi: 10.1002/ajmg.c.32038.
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||
<span class="bold">PMID: </span><a href="/pubmed/36896471" target="_blank">36896471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34068551">Current Overview of Osteogenesis Imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deguchi M,
|
||
Tsuji S,
|
||
Katsura D,
|
||
Kasahara K,
|
||
Kimura F,
|
||
Murakami T</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2021 May 10;57(5)
|
||
doi: 10.3390/medicina57050464.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34068551" target="_blank">34068551</a><a href="/pmc/articles/PMC8151368" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34019743">Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stembalska A,
|
||
Dudarewicz L,
|
||
Śmigiel R</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2021 Jun;30(6):641-647.
|
||
doi: 10.17219/acem/134166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34019743" target="_blank">34019743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30886339">Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maioli M,
|
||
Gnoli M,
|
||
Boarini M,
|
||
Tremosini M,
|
||
Zambrano A,
|
||
Pedrini E,
|
||
Mordenti M,
|
||
Corsini S,
|
||
D'Eufemia P,
|
||
Versacci P,
|
||
Celli M,
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Sangiorgi L</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2019 Jul;27(7):1090-1100.
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Epub 2019 Mar 18
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doi: 10.1038/s41431-019-0373-x.
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<span class="bold">PMID: </span><a href="/pubmed/30886339" target="_blank">30886339</a><a href="/pmc/articles/PMC6777444" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27760454">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
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Phillipi CA,
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Steiner RD,
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Basel D</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2016 Oct 19;10(10):CD005088.
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doi: 10.1002/14651858.CD005088.pub4.
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<span class="bold">PMID: </span><a href="/pubmed/27760454" target="_blank">27760454</a><a href="/pmc/articles/PMC6611487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%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 (979)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36209938">Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mone F,
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Mellis R,
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||
Gabriel H,
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Baptiste C,
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Giordano J,
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Wapner R,
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Chitty LS</span><br />
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<span class="medgenPMjournal">Am J Obstet Gynecol</span>
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2023 Apr;228(4):409-417.e4.
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Epub 2022 Oct 7
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||
doi: 10.1016/j.ajog.2022.09.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36209938" target="_blank">36209938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33222339">Malocclusion in individuals with osteogenesis imperfecta: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prado HV,
|
||
Teixeira SA,
|
||
Rabello F,
|
||
Vargas-Ferreira F,
|
||
Borges-Oliveira AC,
|
||
Abreu LG</span><br />
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<span class="medgenPMjournal">Oral Dis</span>
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||
2022 Mar;28(2):314-325.
|
||
Epub 2020 Nov 22
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||
doi: 10.1111/odi.13715.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33222339" target="_blank">33222339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30910468">Development of the Good2Go MyHealth Passport for individuals with Osteogenesis Imperfecta: A knowledge-synthesis study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeong S,
|
||
Chougui K,
|
||
Mercier C,
|
||
Wong T,
|
||
Lafrance ME,
|
||
Gagnon V,
|
||
Plourde SA,
|
||
Rauch F,
|
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Bilodeau C,
|
||
Thorstad K,
|
||
Tsimicalis A</span><br />
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<span class="medgenPMjournal">Int J Orthop Trauma Nurs</span>
|
||
2019 May;33:27-34.
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||
Epub 2018 Dec 5
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||
doi: 10.1016/j.ijotn.2018.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30910468" target="_blank">30910468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29154388">Systematic review of the effect of denosumab on children with osteogenesis imperfecta showed inconsistent findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li G,
|
||
Jin Y,
|
||
Levine MAH,
|
||
Hoyer-Kuhn H,
|
||
Ward L,
|
||
Adachi JD</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
2018 Mar;107(3):534-537.
|
||
Epub 2017 Dec 8
|
||
doi: 10.1111/apa.14154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29154388" target="_blank">29154388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27760454">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
|
||
Phillipi CA,
|
||
Steiner RD,
|
||
Basel D</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Oct 19;10(10):CD005088.
|
||
doi: 10.1002/14651858.CD005088.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27760454" target="_blank">27760454</a><a href="/pmc/articles/PMC6611487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteogenesis%20imperfecta%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 (51)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0029434%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (34)</a></li>
|
||
<li><a href="/gtr/tests?term=C0029434%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C0029434%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (51)</a></li>
|
||
<li><a href="/gtr/tests?term=C0029434%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0029434%5bDISCUI%5d" target="_blank">See all (70)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS166200" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=666" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Osteogenesis%20imperfecta" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22osteogenesis%20imperfecta%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%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>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=120150%20120160" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1277[geneid]" target="_blank">View COL1A1 variations in ClinVar</a></li><li><a href="/clinvar/?term=1278[geneid]" target="_blank">View COL1A2 variations in ClinVar</a></li><li><a href="/nuccore/167830498,167860098" target="_blank">RefSeqGene</a></li></ul></div>
|
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</div>
|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Osteogenesis+imperfecta/5451" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Osteogenesis%20imperfecta" 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/1017/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<a href="/pubmed/20301472" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
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|
||
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|
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|
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<a href="/pubmed?term=Osteogenesis%20imperfecta%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
||
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|
||
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|
||
|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=45246" ref="log$=recordlinks">MeSH</a>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=45246" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=45246" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5b26a68b6b5afca2d94c">Osteogenesis imperfecta</a>
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<div class="ralinkpop offscreen_noflow">Osteogenesis imperfecta<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb5b24b15b832ebc32f0d9">C0029434[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb5b23f4a390645e691619">CN239451[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(96)</span></a>
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<div class="ralinkpop offscreen_noflow">CN239451[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb5b22b15b832ebc32e3c3">Osteogenesis Imperfecta, Recessive</a>
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