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<meta name="keywords" content="C1865186, bell-shaped chest, bell-shaped thorax, constricted, bell-shaped thorax, finding, narrow, bell-shaped thorax, 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 rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Bell-shaped thorax (Concept Id: C1865186)
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<!--
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UID=351320
|
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ConceptID=C1865186
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bell-shaped thorax</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351320</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:">C1865186</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Bell-shaped chest</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001591">HP:0001591</a></td></tr>
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</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_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>
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<div class="portlet_content ln">The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. [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 mgSection" id="ID_118">
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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=C1865186[DISCUI]&test_type=Clinical" ref="ncbi_uid=351320">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=351320" ref="ncbi_uid=351320">V</a></span></span><span class="TLline">Bell-shaped thorax</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867424" ref="tree=MeSH" title="MedGen record for Abnormal thorax morphology">Abnormal thorax morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871275" ref="tree=MeSH" title="MedGen record for Abnormal rib cage morphology">Abnormal rib cage morphology</a></span><ul><li><span class="matched_ds">Bell-shaped thorax</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<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">
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||
<div class="divPopper rprt" id="rdis_78546"><div><strong>Achondrogenesis, type IA</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78546</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.">C0265273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of Achondrogenesis Achondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (600972), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (200610). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of Achondrogenesis Achondrogenesis type IB (ACG1B; 600972) is caused by mutation in the DTDST gene (606718), and achondrogenesis type II (ACG2; 200610) is caused by mutation in the COL2A1 gene (120140).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78546">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82701"><div><strong>Atelosteogenesis type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82701</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.">C0265283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82701">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120537"><div><strong>Cerebro-costo-mandibular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120537</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.">C0265342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant disorder characterized by branchial arch-derivative and thoracic malformations. A key craniofacial characteristic is micrognathia, often associated with cleft palate and feeding and airway difficulties. Patients with CCMS have a narrow chest and striking posterior rib gaps which distinguish this condition (summary by Tooley et al., 2016). See CDG2G (611209) for a cerebrocostomandibular-like syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120537">Condition Record</a></div></div>
|
||
<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_98034"><div><strong>GAPO syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98034</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.">C0406723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) and Bayram et al. (2014) noted that optic atrophy is not a consistent feature of the disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98034">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140927"><div><strong>Opsismodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140927</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.">C0432219</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Opsismodysplasia (OPSMD) is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by Below et al., 2013 and Fradet and Fitzgerald, 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140927">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333149"><div><strong>Chondrodysplasia-pseudohermaphroditism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333149</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.">C1838654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333149">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374993"><div><strong>Diaphanospondylodysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374993</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.">C1842691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374993">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336441"><div><strong>Thoracomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336441</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.">C1848863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336441">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338595"><div><strong>Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338595</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.">C1849011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylometaepiphyseal dysplasia, short limb-hand type is an autosomal recessive disorder with clinical and radiologic features of disproportionate short stature, platyspondyly, abnormal epiphyses and metaphyses, shortening of the lower and upper limbs, short and broad fingers, and premature calcifications. The disorder is progressive with respect to the severity of the bowing of the lower limbs and the appearance of calcifications, with some patients being wheelchair-bound from age 11 years (Bargal et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338595">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342400"><div><strong>Pelviscapular dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342400</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.">C1850040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cousin syndrome is an autosomal recessive complex cranial, cervical, auricular, and skeletal malformation syndrome with scapular and pelvic hypoplasia (summary by Lausch et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342400">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343403"><div><strong>Oculocerebrofacial syndrome, Kaufman type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343403</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.">C1855663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kaufman oculocerebrofacial syndrome (KOS) is characterized by developmental delay, severe intellectual disability, and distinctive craniofacial features. Most affected children have prenatal-onset microcephaly, hypotonia, and growth deficiency. Feeding issues, ocular abnormalities, hearing impairment, and respiratory tract abnormalities are common. Ocular abnormalities can include structural abnormalities (microcornea or microphthalmia, coloboma, optic nerve hypoplasia), refractive errors (myopia ± astigmatism, hyperopia), strabismus, and entropion. Both conductive and sensorineural hearing loss have been reported as well as mixed conductive-sensorineural hearing loss of variable severity. Breathing problems can lead to prolonged hospitalization after birth in more than half of individuals. Less common findings include ectodermal abnormalities, cardiac manifestations, urogenital abnormalities, seizures, and skeletal abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343403">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349978"><div><strong>Thoracolaryngopelvic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349978</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.">C1861197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349978">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396080"><div><strong>Thoracic dysostosis, isolated</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396080</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.">C1861204</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396080">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400703"><div><strong>Spondyloepimetaphyseal dysplasia, Shohat type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400703</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.">C1865185</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distention with hepatosplenomegaly (summary by Egunsola et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413221"><div><strong>Autosomal recessive spondylometaphyseal dysplasia, Megarbane type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413221</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.">C2750075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413221">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419686"><div><strong>Richieri Costa-da Silva syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419686</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.">C2930978</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419686">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462292"><div><strong>Spondylocostal dysostosis 4, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462292</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.">C3150942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462292">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482758"><div><strong>Fibrochondrogenesis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482758</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.">C3281128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012). For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (228520).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482758">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482877"><div><strong>Bent bone dysplasia syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482877</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.">C3281247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bent bone dysplasia syndrome-1 (BBDS1) is a perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones (Merrill et al., 2012). Genetic Heterogeneity of Bent Bone Dysplasia Syndrome BBDS2 (620076) is caused by mutation in the LAMA5 gene (601033) on chromosome 20q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482877">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766829"><div><strong>Methylmalonic acidemia with homocystinuria, type cblJ</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766829</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.">C3553915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF; 277380) (summary by Coelho et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766829">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816505"><div><strong>Short-rib thoracic dysplasia 10 with or without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816505</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.">C3810175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816505">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816530"><div><strong>Short-rib thoracic dysplasia 11 with or without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816530</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.">C3810200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816530">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816542"><div><strong>Joubert syndrome 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816542</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.">C3810212</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816542">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_898712"><div><strong>Short-rib thoracic dysplasia 13 with or without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898712</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.">C4225378</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898712">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648474"><div><strong>Peroxisome biogenesis disorder 1A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648474</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.">C4721541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648474">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1678789"><div><strong>Brain abnormalities, neurodegeneration, and dysosteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1678789</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.">C5193117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum (summary by Guo et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1678789">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684769"><div><strong>Myopathy, congenital, progressive, with scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684769</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.">C5231417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-19 (CMYO19) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features (Feichtinger et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684769">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1723598"><div><strong>Osteogenesis imperfecta, type 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1723598</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.">C5436875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta type XXI (OI21) is a progressively deforming disorder, characterized by multiple fractures that often occur after minor trauma. Fractures may be present at birth in some affected individuals. Patients exhibit disproportionate short stature and scoliosis, and are often wheelchair-bound by adulthood (van Dijk et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1723598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1843450"><div><strong>Paternal uniparental disomy of chromosome 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1843450</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.">C5680251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kagami-Ogata syndrome is characterized by developmental delay, intellectual disability, feeding difficulty with impaired swallowing, full cheeks, prominent and deep philtrum, small bell-shaped thorax with coat-hanger appearance of the ribs, and abdominal wall defects (omphalocele and diastasis recti). Additional common features include joint contractures, kyphoscoliosis, coxa valga, and laryngomalacia. Cardiac disease and hepatoblastoma have also been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1843450">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achondrogenesis, type IA</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atelosteogenesis type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive spondylometaphyseal dysplasia, Megarbane type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482877" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bent bone dysplasia syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1678789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain abnormalities, neurodegeneration, and dysosteosclerosis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (30)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120537" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebro-costo-mandibular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondrodysplasia-pseudohermaphroditism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diaphanospondylodysostosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482758" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibrochondrogenesis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GAPO syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816542" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic acidemia with homocystinuria, type cblJ</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684769" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, congenital, progressive, with scoliosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocerebrofacial syndrome, Kaufman type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140927" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Opsismodysplasia</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_1723598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta, type 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1843450" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paternal uniparental disomy of chromosome 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelviscapular dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 1A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Richieri Costa-da Silva syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816505" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 10 with or without polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 11 with or without polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_898712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 13 with or without polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocostal dysostosis 4, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, Shohat type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396080" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracic dysostosis, isolated</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracolaryngopelvic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracomelic dysplasia</a></div></span></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/38369506">Polyhydramnios associated with rare genetic syndromes: two case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim CWC,
|
||
Lustestica IE,
|
||
Poon WB,
|
||
Tan WC</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2024 Feb 19;18(1):97.
|
||
doi: 10.1186/s13256-024-04435-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38369506" target="_blank">38369506</a><a href="/pmc/articles/PMC10875787" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35916808">Chest wall deformities and their possible associations with different genetic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andreescu N,
|
||
Sharma A,
|
||
Mihailescu A,
|
||
Zimbru CG,
|
||
David VL,
|
||
Horhat R,
|
||
Kundnani NR,
|
||
Puiu M,
|
||
Farcas S</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2022 Jul;26(14):5107-5114.
|
||
doi: 10.26355/eurrev_202207_29298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35916808" target="_blank">35916808</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/31278392">Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mihalic Mosher T,
|
||
Zygmunt DA,
|
||
Koboldt DC,
|
||
Kelly BJ,
|
||
Johnson LR,
|
||
McKenna DS,
|
||
Hood BC,
|
||
Hickey SE,
|
||
White P,
|
||
Wilson RK,
|
||
Martin PT,
|
||
McBride KL</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2019 Oct;27(10):1569-1577.
|
||
Epub 2019 Jul 5
|
||
doi: 10.1038/s41431-019-0464-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31278392" target="_blank">31278392</a><a href="/pmc/articles/PMC6777465" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11754051">Acampomelic campomelic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moog U,
|
||
Jansen NJ,
|
||
Scherer G,
|
||
Schrander-Stumpel CT</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2001 Dec 1;104(3):239-45.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11754051" target="_blank">11754051</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bell-shaped%20thorax%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35916808">Chest wall deformities and their possible associations with different genetic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andreescu N,
|
||
Sharma A,
|
||
Mihailescu A,
|
||
Zimbru CG,
|
||
David VL,
|
||
Horhat R,
|
||
Kundnani NR,
|
||
Puiu M,
|
||
Farcas S</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2022 Jul;26(14):5107-5114.
|
||
doi: 10.26355/eurrev_202207_29298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35916808" target="_blank">35916808</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/33179779">Prenatal diagnosis of Kagami-Ogata syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Molinet Coll C,
|
||
Sabrià Bach J,
|
||
Izquierdo Renau M,
|
||
Alarcón Allen A,
|
||
Monk D,
|
||
Gómez Del Rincón O,
|
||
Milà Recasens M,
|
||
Martínez Crespo JM</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2021 Jun;49(5):498-501.
|
||
Epub 2020 Nov 12
|
||
doi: 10.1002/jcu.22942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33179779" target="_blank">33179779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26377239">Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogata T,
|
||
Kagami M</span><br />
|
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<span class="medgenPMjournal">J Hum Genet</span>
|
||
2016 Feb;61(2):87-94.
|
||
Epub 2015 Sep 17
|
||
doi: 10.1038/jhg.2015.113.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26377239" target="_blank">26377239</a><a href="/pmc/articles/PMC4771937" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18059071">Prenatal testing for uniparental disomy: indications and clinical relevance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kotzot D</span><br />
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<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2008 Jan;31(1):100-5.
|
||
doi: 10.1002/uog.5133.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18059071" target="_blank">18059071</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bell-shaped%20thorax%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 (24)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37188488">Cyclic intravenous pamidronate for an infant with osteogenesis imperfecta type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukahori K,
|
||
Nirei J,
|
||
Yamawaki K,
|
||
Nagasaki K</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2023 May 15;16(5)
|
||
doi: 10.1136/bcr-2022-252593.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37188488" target="_blank">37188488</a><a href="/pmc/articles/PMC10186469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bell-shaped%20thorax%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35953028">Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Higashiyama H,
|
||
Ohsone Y,
|
||
Takatani R,
|
||
Futatani T,
|
||
Kosaki R,
|
||
Kagami M</span><br />
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||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Oct;65(10):104580.
|
||
Epub 2022 Aug 8
|
||
doi: 10.1016/j.ejmg.2022.104580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35953028" target="_blank">35953028</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,
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||
Śmigiel R</span><br />
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<span class="medgenPMjournal">Adv Clin Exp Med</span>
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||
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/18925669">Sib pair with previously unreported skeletal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mégarbané A,
|
||
Dagher R,
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Melki I</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2008 Nov 15;146A(22):2916-9.
|
||
doi: 10.1002/ajmg.a.32540.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18925669" target="_blank">18925669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11754051">Acampomelic campomelic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moog U,
|
||
Jansen NJ,
|
||
Scherer G,
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<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2001 Dec 1;104(3):239-45.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11754051" target="_blank">11754051</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9853726">Predictive value of fetal ultrasonography in the diagnosis of a lethal skeletal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hersh JH,
|
||
Angle B,
|
||
Pietrantoni M,
|
||
Cook VD,
|
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Spinnato JA,
|
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Clark AL,
|
||
Kurtzman JT,
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Bendon RW,
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Gerassimides A</span><br />
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<span class="medgenPMjournal">South Med J</span>
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||
1998 Dec;91(12):1137-42.
|
||
doi: 10.1097/00007611-199812000-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9853726" target="_blank">9853726</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bell-shaped%20thorax%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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/31994200">Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Altmann J,
|
||
Horn D,
|
||
Korinth D,
|
||
Eggermann T,
|
||
Henrich W,
|
||
Verlohren S</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2020 May;48(4):240-243.
|
||
Epub 2020 Jan 28
|
||
doi: 10.1002/jcu.22815.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31994200" target="_blank">31994200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16152632">Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kagami M,
|
||
Nishimura G,
|
||
Okuyama T,
|
||
Hayashidani M,
|
||
Takeuchi T,
|
||
Tanaka S,
|
||
Ishino F,
|
||
Kurosawa K,
|
||
Ogata T</span><br />
|
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Oct 1;138A(2):127-32.
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/16152632" target="_blank">16152632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9589141">Prenatal diagnosis of ductus venosus agenesis: a report of two cases and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gembruch U,
|
||
Baschat AA,
|
||
Caliebe A,
|
||
Gortner L</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
1998 Mar;11(3):185-9.
|
||
doi: 10.1046/j.1469-0705.1998.11030185.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9589141" target="_blank">9589141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3184141">A probably distinct autosomal recessive thoraco-limb dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivera H,
|
||
Perez-Salas JM,
|
||
Nazara Z,
|
||
Ramirez ML</span><br />
|
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<span class="medgenPMjournal">J Med Genet</span>
|
||
1988 Sep;25(9):619-22.
|
||
doi: 10.1136/jmg.25.9.619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3184141" target="_blank">3184141</a><a href="/pmc/articles/PMC1051540" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bell-shaped%20thorax%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 (8)</a></div></div>
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<li><a href="/gtr/tests?term=C1865186%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
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