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<meta name="keywords" content="C1853171, congenital bone fractures, finding, multiple fractures present at birth, multiple fractures, present at birth, multiple prenatal fractures, numerous multiple fractures present at birth, numerous multiple fractures that are present at birth, 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="The presence of bone fractures in the prenatal period that are diagnosed at birth or before." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=377844
|
||
ConceptID=C1853171
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multiple prenatal fractures</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377844</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1853171</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Multiple fractures present at birth; Multiple fractures, present at birth; Numerous multiple fractures present at birth</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0005855">HP:0005855</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">The presence of bone fractures in the prenatal period that are diagnosed at birth or before. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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></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=C1853171[DISCUI]&test_type=Clinical" ref="ncbi_uid=377844">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=377844" ref="ncbi_uid=377844">V</a></span></span><span class="TLline">Multiple prenatal fractures</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/1728335" ref="tree=MeSH" title="MedGen record for Abnormal musculoskeletal physiology">Abnormal musculoskeletal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/234655" ref="tree=MeSH" title="MedGen record for Increased susceptibility to fractures">Increased susceptibility to fractures</a></span><ul><li><span class="matched_ds">Multiple prenatal fractures</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_75673"><div><strong>Osteogenesis imperfecta, perinatal lethal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75673</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.">C0268358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75673">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78664"><div><strong>Osteogenesis imperfecta type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78664</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.">C0268362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78664">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376720"><div><strong>Osteogenesis imperfecta type 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376720</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.">C1850169</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX (OI9) is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376720">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337988"><div><strong>Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337988</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.">C1850184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337988">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343981"><div><strong>Osteogenesis imperfecta type 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343981</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.">C1853162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343981">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410075"><div><strong>Osteogenesis imperfecta type 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410075</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410075">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_418969"><div><strong>Greenberg dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418969</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.">C2931048</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Greenberg dysplasia (GRBGD), also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/418969">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_900688"><div><strong>Complex lethal osteochondrodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>900688</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.">C4225162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/900688">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_907910"><div><strong>Spinal muscular atrophy with congenital bone fractures 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907910</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.">C4225176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). For a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907910">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_896011"><div><strong>Spinal muscular atrophy with congenital bone fractures 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896011</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.">C4225177</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures See also SMABF2 (616867), caused by mutation in the ASCC1 gene (614215) on chromosome 10q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/896011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648353"><div><strong>Osteogenesis imperfecta, type 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648353</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.">C4746956</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648353">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684751"><div><strong>Osteogenesis imperfecta, type 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684751</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.">C5231439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography. Several patients have died due to respiratory failure (Moosa et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684751">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1801631"><div><strong>Osteogenesis imperfecta, IIA 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801631</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.">C5676943</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease (Dubail et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1801631">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_900688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complex lethal osteochondrodysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Greenberg dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 8</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376720" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type III</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1801631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta, IIA 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75673" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta, perinatal lethal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648353" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta, type 19</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta, type 20</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy with congenital bone fractures 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy with congenital bone fractures 2</a></div></span></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/31764749">Guidance for Evaluation and Management of Blunt Abdominal Trauma in Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greco PS,
|
||
Day LJ,
|
||
Pearlman MD</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2019 Dec;134(6):1343-1357.
|
||
doi: 10.1097/AOG.0000000000003585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31764749" target="_blank">31764749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21370244">Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeh P,
|
||
Saeed F,
|
||
Paramasivam G,
|
||
Wyatt-Ashmead J,
|
||
Kumar S</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2011 May;31(5):515-8.
|
||
Epub 2011 Mar 3
|
||
doi: 10.1002/pd.2729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21370244" target="_blank">21370244</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8456803">Non-invasive prenatal diagnosis of osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1993 Jan 15;45(2):201-6.
|
||
doi: 10.1002/ajmg.1320450210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8456803" target="_blank">8456803</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(multiple%20prenatal%20fractures)%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 (7)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38346409">Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senturk L,
|
||
Gulec C,
|
||
Sarac Sivrikoz T,
|
||
Kayserili H,
|
||
Kalelioglu IH,
|
||
Avci S,
|
||
Has R,
|
||
Coucke P,
|
||
Kalayci T,
|
||
Wollnik B,
|
||
Karaman B,
|
||
Toksoy G,
|
||
Symoens S,
|
||
Yigit G,
|
||
Yuksel A,
|
||
Basaran S,
|
||
Tuysuz B,
|
||
Altunoglu U,
|
||
Uyguner ZO</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2024;51(3):285-299.
|
||
Epub 2024 Feb 12
|
||
doi: 10.1159/000536324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38346409" target="_blank">38346409</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36476632">Bruck Syndrome: Beyond the Obvious.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tran CT,
|
||
Smet ME,
|
||
Forsey J,
|
||
Zankl A,
|
||
Nayyar R</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2022;49(11-12):479-485.
|
||
Epub 2022 Dec 7
|
||
doi: 10.1159/000527594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36476632" target="_blank">36476632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32147523">Developmental exposure to a mixture of unconventional oil and gas chemicals: A review of experimental effects on adult health, behavior, and disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagel SC,
|
||
Kassotis CD,
|
||
Vandenberg LN,
|
||
Lawrence BP,
|
||
Robert J,
|
||
Balise VD</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Endocrinol</span>
|
||
2020 Aug 1;513:110722.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1016/j.mce.2020.110722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32147523" target="_blank">32147523</a><a href="/pmc/articles/PMC7539678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24459070">Amyoplasia revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall JG,
|
||
Aldinger KA,
|
||
Tanaka KI</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Mar;164A(3):700-30.
|
||
Epub 2014 Jan 23
|
||
doi: 10.1002/ajmg.a.36395.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24459070" target="_blank">24459070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2403681">Osteogenesis imperfecta type II: prenatal sonographic diagnosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Munoz C,
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Filly RA,
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1990 Jan;174(1):181-5.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20prenatal%20fractures%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38346409">Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Senturk L,
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Gulec C,
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Kayserili H,
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Kalelioglu IH,
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Avci S,
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Has R,
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Coucke P,
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Kalayci T,
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Wollnik B,
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Karaman B,
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Toksoy G,
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Symoens S,
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Yigit G,
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Yuksel A,
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Basaran S,
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Tuysuz B,
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Altunoglu U,
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Uyguner ZO</span><br />
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<span class="medgenPMjournal">Fetal Diagn Ther</span>
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2024;51(3):285-299.
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Epub 2024 Feb 12
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doi: 10.1159/000536324.
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<span class="bold">PMID: </span><a href="/pubmed/38346409" target="_blank">38346409</a></div>
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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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Kasahara K,
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Kimura F,
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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.
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/31764749">Guidance for Evaluation and Management of Blunt Abdominal Trauma in Pregnancy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Greco PS,
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Day LJ,
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<span class="bold">PMID: </span><a href="/pubmed/24459070" target="_blank">24459070</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3516171">Midtrimester diagnosis of severe deforming osteogenesis imperfecta with autosomal dominant inheritance.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carpenter MW,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20prenatal%20fractures%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 (50)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38834319">An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/38834319" target="_blank">38834319</a><a href="/pmc/articles/PMC11163617" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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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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Kasahara K,
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Kimura F,
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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.
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/32147523">Developmental exposure to a mixture of unconventional oil and gas chemicals: A review of experimental effects on adult health, behavior, and disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nagel SC,
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Kassotis CD,
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<span class="bold">PMID: </span><a href="/pubmed/32147523" target="_blank">32147523</a><a href="/pmc/articles/PMC7539678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28828634">Potential risk factors for birth fractures: a case-control study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ariyawatkul T,
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Worawuthangkul K,
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Chotigavanichaya C,
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Kaewpornsawan K,
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Chalayon O,
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Eamsobhana P</span><br />
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<span class="medgenPMjournal">Int Orthop</span>
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2017 Nov;41(11):2361-2364.
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Epub 2017 Aug 21
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doi: 10.1007/s00264-017-3600-5.
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<span class="bold">PMID: </span><a href="/pubmed/28828634" target="_blank">28828634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26426884">Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bellur S,
|
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Jain M,
|
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Cuthbertson D,
|
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Krakow D,
|
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Shapiro JR,
|
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Steiner RD,
|
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Smith PA,
|
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Bober MB,
|
||
Hart T,
|
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Krischer J,
|
||
Mullins M,
|
||
Byers PH,
|
||
Pepin M,
|
||
Durigova M,
|
||
Glorieux FH,
|
||
Rauch F,
|
||
Sutton VR,
|
||
Lee B;
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Members of the BBD Consortium,
|
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Nagamani SC</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2016 Jun;18(6):570-6.
|
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Epub 2015 Oct 1
|
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doi: 10.1038/gim.2015.131.
|
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<span class="bold">PMID: </span><a href="/pubmed/26426884" target="_blank">26426884</a><a href="/pmc/articles/PMC4818203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20prenatal%20fractures%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/36476632">Bruck Syndrome: Beyond the Obvious.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Tran CT,
|
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Smet ME,
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Forsey J,
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Zankl A,
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Nayyar R</span><br />
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<span class="medgenPMjournal">Fetal Diagn Ther</span>
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2022;49(11-12):479-485.
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Epub 2022 Dec 7
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doi: 10.1159/000527594.
|
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<span class="bold">PMID: </span><a href="/pubmed/36476632" target="_blank">36476632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35461249">Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnier H,
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Barrea C,
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Bethlen S,
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Schrouff I,
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Harvengt J</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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doi: 10.1186/s13023-022-02323-8.
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<span class="bold">PMID: </span><a href="/pubmed/35461249" target="_blank">35461249</a><a href="/pmc/articles/PMC9034487" 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,
|
||
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/26426884">Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bellur S,
|
||
Jain M,
|
||
Cuthbertson D,
|
||
Krakow D,
|
||
Shapiro JR,
|
||
Steiner RD,
|
||
Smith PA,
|
||
Bober MB,
|
||
Hart T,
|
||
Krischer J,
|
||
Mullins M,
|
||
Byers PH,
|
||
Pepin M,
|
||
Durigova M,
|
||
Glorieux FH,
|
||
Rauch F,
|
||
Sutton VR,
|
||
Lee B;
|
||
Members of the BBD Consortium,
|
||
Nagamani SC</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2016 Jun;18(6):570-6.
|
||
Epub 2015 Oct 1
|
||
doi: 10.1038/gim.2015.131.
|
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<span class="bold">PMID: </span><a href="/pubmed/26426884" target="_blank">26426884</a><a href="/pmc/articles/PMC4818203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26401205">Perinatal lethal type II osteogenesis imperfecta: a case report.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ayadi ID,
|
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Hamida EB,
|
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Rebeh RB,
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Chaouachi S,
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Marrakchi Z</span><br />
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<span class="medgenPMjournal">Pan Afr Med J</span>
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Epub 2015 May 5
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<span class="bold">PMID: </span><a href="/pubmed/26401205" target="_blank">26401205</a><a href="/pmc/articles/PMC4561136" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20prenatal%20fractures%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 (19)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38346409">Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Senturk L,
|
||
Gulec C,
|
||
Sarac Sivrikoz T,
|
||
Kayserili H,
|
||
Kalelioglu IH,
|
||
Avci S,
|
||
Has R,
|
||
Coucke P,
|
||
Kalayci T,
|
||
Wollnik B,
|
||
Karaman B,
|
||
Toksoy G,
|
||
Symoens S,
|
||
Yigit G,
|
||
Yuksel A,
|
||
Basaran S,
|
||
Tuysuz B,
|
||
Altunoglu U,
|
||
Uyguner ZO</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2024;51(3):285-299.
|
||
Epub 2024 Feb 12
|
||
doi: 10.1159/000536324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38346409" target="_blank">38346409</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36566820">Exposure to famine in every stage of life and the risk of osteoporosis and fractures later in life: A cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang M,
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Yin H,
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Zhen D,
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Ding Y,
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Wang Y,
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Sun L,
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He F,
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Tang X</span><br />
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<span class="medgenPMjournal">Bone</span>
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2023 Mar;168:116644.
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Epub 2022 Dec 23
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doi: 10.1016/j.bone.2022.116644.
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||
<span class="bold">PMID: </span><a href="/pubmed/36566820" target="_blank">36566820</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36476632">Bruck Syndrome: Beyond the Obvious.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tran CT,
|
||
Smet ME,
|
||
Forsey J,
|
||
Zankl A,
|
||
Nayyar R</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2022;49(11-12):479-485.
|
||
Epub 2022 Dec 7
|
||
doi: 10.1159/000527594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36476632" target="_blank">36476632</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/21370244">Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeh P,
|
||
Saeed F,
|
||
Paramasivam G,
|
||
Wyatt-Ashmead J,
|
||
Kumar S</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2011 May;31(5):515-8.
|
||
Epub 2011 Mar 3
|
||
doi: 10.1002/pd.2729.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21370244" target="_blank">21370244</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20prenatal%20fractures%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 (15)</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/35461249">Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warnier H,
|
||
Barrea C,
|
||
Bethlen S,
|
||
Schrouff I,
|
||
Harvengt J</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Apr 23;17(1):174.
|
||
doi: 10.1186/s13023-022-02323-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35461249" target="_blank">35461249</a><a href="/pmc/articles/PMC9034487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20prenatal%20fractures%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1853171%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
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<li><a href="/gtr/tests?term=C1853171%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
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