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<!--
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UID=374771
|
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ConceptID=C1841684
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Delayed ossification of carpal bones</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374771</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.">C1841684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Carpal delayed ossification; Carpal ossification delay; Delayed carpal bone age; Delayed carpal bone ossification; Delayed carpal ossification</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:0001216">HP:0001216</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>
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||
<div class="portlet_content ln">Ossification of carpal bones occurs later than age-adjusted norms. [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>
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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=C1841684[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=374771">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Delayed ossification of carpal bones</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/866555" ref="tree=MeSH" title="MedGen record for Abnormality of the upper limb">Abnormality of the upper limb</a></span><ul><li><span class="TLline"><a href="/medgen/6715" ref="tree=MeSH" title="MedGen record for Abnormality of the hand">Abnormality of the hand</a></span><ul><li><span class="TLline"><a href="/medgen/870655" ref="tree=MeSH" title="MedGen record for Abnormal hand morphology">Abnormal hand morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866888" ref="tree=MeSH" title="MedGen record for Abnormal hand bone ossification">Abnormal hand bone ossification</a></span><ul><li><span class="TLline"><a href="/medgen/870624" ref="tree=MeSH" title="MedGen record for Abnormality of carpal bone ossification">Abnormality of carpal bone ossification</a></span><ul><li><span class="matched_ds">Delayed ossification of carpal bones</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</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">
|
||
<div class="divPopper rprt" id="rdis_82698"><div><strong>Spondylometaphyseal dysplasia, Kozlowski type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82698</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.">C0265280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82698">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_266247"><div><strong>Sponastrime dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266247</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.">C1300260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266247">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_366028"><div><strong>Angel-shaped phalango-epiphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>366028</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.">C1739384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/366028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333031"><div><strong>CODAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333031</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.">C1838180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325097"><div><strong>Eiken syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325097</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.">C1838779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325097">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331103"><div><strong>Hand-foot-genital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331103</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:">C1841679</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild-to-severe bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital malformations include abnormalities of the ureters and urethra and various degrees of incomplete müllerian fusion in females, and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis may occur; fertility is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334681"><div><strong>Acrocapitofemoral dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334681</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.">C1843096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334681">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335542"><div><strong>Multiple epiphyseal dysplasia type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335542</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.">C1846843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335542">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376281"><div><strong>X-linked spondyloepimetaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376281</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.">C1848097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked spondyloepimetaphyseal dysplasia (SEMDX) is characterized by anomalies of the spine and the epiphyses and metaphyses of the long bones, resulting in short stature and osteoarthritic changes of the joints. Patients with SEMDX show rhizomelic shortening of the limbs and short limb-to-trunk ratio, significant bowing of the legs, waddling gait with lumbar lordosis, and brachydactyly (Cho et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376281">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355893"><div><strong>Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355893</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.">C1865022</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/355893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356650"><div><strong>Skeletal dysplasia with delayed epiphyseal and carpal bone ossification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356650</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.">C1866939</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/356650">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1381460"><div><strong>Immunoskeletal dysplasia with neurodevelopmental abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1381460</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.">C4479452</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/1381460">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647044"><div><strong>Hyperphosphatasia with intellectual disability syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647044</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.">C4551502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is an autosomal recessive disorder characterized by impaired intellectual development, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293). Genetic Heterogeneity of Hyperphosphatasia with Impaired Intellectual Development Syndrome See also HPMRS2 (614749), caused by mutation in the PIGO gene (614730) on chromosome 9p13; HPMRS3 (614207), caused by mutation in the PGAP2 gene (615187) on chromosome 11p15; HPMRS4 (615716), caused by mutation in the PGAP3 gene (611801) on chromosome 17q12; HPMRS5 (616025), caused by mutation in the PIGW gene (610275) on chromosome 17q12; and HPMRS6 (616809), caused by mutation in the PIGY gene (610662) on chromosome 4q22. Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., 614080), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647044">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1638106"><div><strong>Anauxetic dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638106</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.">C4551965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1638106">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646454"><div><strong>Spondyloepimetaphyseal dysplasia, di rocco type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646454</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.">C4693799</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646454">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683128"><div><strong>Spondyloepiphyseal dysplasia, kondo-fu type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683128</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.">C5193071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes (MBTPS1-SEMD) is characterized by postnatal-onset short stature, chest deformity (pectus carinatum or pectus excavatum), kyphosis and/or scoliosis, reduced bone density, inguinal hernia, protruding abdomen, cataracts, developmental delay, and dysmorphic facial features (prominent forehead, prominent cheekbones, retromicrognathia, wide mouth, and large, prominent ears). Additional features can include waddling or staggering gait, craniosynostosis, mild intellectual disability, and seizures. Imaging findings include diffuse osteopenia, copper-beaten appearance of the skull, dysplasia of multiple thoracolumbar vertebrae, long bones with small and irregular epiphyses and mildly enlarged and irregular metaphyses, hip dysplasia with small fragmented sclerotic femoral heads, and short metacarpals and metatarsals with small epiphyses. Increased concentration of multiple lysosomal hydrolase enzymes can be identified in plasma and dried blood spots.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1683128">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677378"><div><strong>Spondyloepimetaphyseal dysplasia with joint laxity, type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677378</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.">C5193073</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (EXOC6B-SEMD-JL) is characterized by multiple joint dislocations, joint laxity, genu valgum, short stature, and skeletal dysplasia. Joint dislocations of the hips and knees are present at birth in all individuals reported to date. Dislocations can also occur at the elbows, wrists, ankles, and patellae. Growth deficiency develops postnatally. Short neck, scoliosis, kyphosis, and hyperlordosis are reported. The fingers are slender (leptodactyly). Radiographic manifestations include delayed carpal/tarsal bone ossification, gracile short tubular bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia (irregular vertebral end plates, narrow interpedicular distance of the lumbar spine, and modest platyspondyly) with age-dependent evolution.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1677378">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1784281"><div><strong>Odontochondrodysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784281</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.">C5542277</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Odontochondrodysplasia-1 (ODCD1) is characterized by mesomelic shortening of tubular bones, ligamentous laxity, and scoliosis, in association with dentinogenesis imperfecta involving both primary and secondary dentition. Affected individuals show variable severity. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses (Maroteaux et al., 1996). Clinical variability and extraskeletal manifestations have been observed (Wehrle et al., 2019). Genetic Heterogeneity of Odontochondrodysplasia Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2; 619269) is caused by mutation in the TANGO1 gene (MIA3; 613455) on chromosome 1q41.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784281">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824016"><div><strong>Cleidocranial dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824016</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.">C5774243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleidocranial dysplasia-2 (CLCD2) is characterized by clavicular anomalies, ranging from unilateral 'clavicula bipartita' to bilateral clavicular aplasia, and dental anomalies, including delayed or absent eruption of deciduous teeth and supernumerary teeth. Skull abnormalities such as delayed closure of fontanels have been reported; other skeletal features include delayed bone age, short distal phalanges, and pseudoepiphyses of the metacarpals and/or metatarsals. Phenotypic variability, including intrafamilial, has been observed (Beyltjens et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of cleidocranial dysplasia, see CLCD1 (119600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824016">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334681" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocapitofemoral dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anauxetic dysplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_366028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angel-shaped phalango-epiphyseal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleidocranial dysplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CODAS syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eiken syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hand-foot-genital syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasia with intellectual disability syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1381460" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunoskeletal dysplasia with neurodevelopmental abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335542" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple epiphyseal dysplasia type 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odontochondrodysplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal dysplasia with delayed epiphyseal and carpal bone ossification</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sponastrime dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677378" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia with joint laxity, type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, di rocco type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, kondo-fu type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, Kozlowski type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked spondyloepimetaphyseal dysplasia</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/30017377">Differences in the auxological characters of children with short stature - Differential diagnostic possibilities of hypothyreosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daniš R,
|
||
Hill M,
|
||
Sedlak P</span><br />
|
||
<span class="medgenPMjournal">Homo</span>
|
||
2018 May;69(3):139-145.
|
||
Epub 2018 Jun 1
|
||
doi: 10.1016/j.jchb.2018.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30017377" target="_blank">30017377</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(delayed%20ossification%20of%20carpal%20bones)%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 (1)</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/27013317">Complications With the Use of BMP-2 in Scaphoid Nonunion Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brannan PS,
|
||
Gaston RG,
|
||
Loeffler BJ,
|
||
Lewis DR</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2016 May;41(5):602-8.
|
||
Epub 2016 Mar 22
|
||
doi: 10.1016/j.jhsa.2016.01.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27013317" target="_blank">27013317</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24732105">Role of growth hormone in enchondroplasia and chondral osteogenesis: evaluation by X-ray of the hand.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Even L,
|
||
Andersson B,
|
||
Kriström B,
|
||
Albertsson-Wikland K,
|
||
Hochberg Z</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2014 Jul;76(1):109-14.
|
||
Epub 2014 Apr 14
|
||
doi: 10.1038/pr.2014.56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24732105" target="_blank">24732105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19183988">The carpal bones in Poland syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman T,
|
||
Reed M,
|
||
Elliott AM</span><br />
|
||
<span class="medgenPMjournal">Skeletal Radiol</span>
|
||
2009 Jun;38(6):585-91.
|
||
Epub 2009 Jan 30
|
||
doi: 10.1007/s00256-008-0638-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19183988" target="_blank">19183988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17618432">Carpal-tarsal osteolysis with elbow involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDonald K,
|
||
Toms AP,
|
||
Armon K,
|
||
Johnson K,
|
||
Marshall TJ</span><br />
|
||
<span class="medgenPMjournal">Skeletal Radiol</span>
|
||
2007 Nov;36(11):1097-101.
|
||
Epub 2007 Jul 6
|
||
doi: 10.1007/s00256-007-0346-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17618432" target="_blank">17618432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10797420">SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper HA,
|
||
Crowe J,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 May 1;92(1):33-9.
|
||
doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10797420" target="_blank">10797420</a><a href="/pmc/articles/PMC5237388" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20ossification%20of%20carpal%20bones%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37586838">Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peluso F,
|
||
Caraffi SG,
|
||
Contrò G,
|
||
Valeri L,
|
||
Napoli M,
|
||
Carboni G,
|
||
Seth A,
|
||
Zuntini R,
|
||
Coccia E,
|
||
Astrea G,
|
||
Bisgaard AM,
|
||
Ivanovski I,
|
||
Maitz S,
|
||
Brischoux-Boucher E,
|
||
Carter MT,
|
||
Dentici ML,
|
||
Devriendt K,
|
||
Bellini M,
|
||
Digilio MC,
|
||
Doja A,
|
||
Dyment DA,
|
||
Farholt S,
|
||
Ferreira CR,
|
||
Wolfe LA,
|
||
Gahl WA,
|
||
Gnazzo M,
|
||
Goel H,
|
||
Grønborg SW,
|
||
Hammer T,
|
||
Iughetti L,
|
||
Kleefstra T,
|
||
Koolen DA,
|
||
Lepri FR,
|
||
Lemire G,
|
||
Louro P,
|
||
McCullagh G,
|
||
Madeo SF,
|
||
Milone A,
|
||
Milone R,
|
||
Nielsen JEK,
|
||
Novelli A,
|
||
Ockeloen CW,
|
||
Pascarella R,
|
||
Pippucci T,
|
||
Ricca I,
|
||
Robertson SP,
|
||
Sawyer S,
|
||
Falkenberg Smeland M,
|
||
Stegmann S,
|
||
Stumpel CT,
|
||
Goel A,
|
||
Taylor JM,
|
||
Barbuti D,
|
||
Soresina A,
|
||
Bedeschi MF,
|
||
Battini R,
|
||
Cavalli A,
|
||
Fusco C,
|
||
Iascone M,
|
||
Van Maldergem L,
|
||
Venkateswaran S,
|
||
Zuffardi O,
|
||
Vergano S,
|
||
Garavelli L,
|
||
Bayat A</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2023 Nov 27;60(12):1224-1234.
|
||
doi: 10.1136/jmg-2023-109141.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37586838" target="_blank">37586838</a><a href="/pmc/articles/PMC10715526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33783579">Radiographic characterization of acute scaphoid fractures in children under 11 years of age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen MK,
|
||
Arkader A,
|
||
Kaplan SL,
|
||
Guariento A,
|
||
Hong S,
|
||
Moore ZR,
|
||
Nguyen JC</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2021 Aug;51(9):1690-1695.
|
||
Epub 2021 Mar 30
|
||
doi: 10.1007/s00247-021-05052-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33783579" target="_blank">33783579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30017377">Differences in the auxological characters of children with short stature - Differential diagnostic possibilities of hypothyreosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daniš R,
|
||
Hill M,
|
||
Sedlak P</span><br />
|
||
<span class="medgenPMjournal">Homo</span>
|
||
2018 May;69(3):139-145.
|
||
Epub 2018 Jun 1
|
||
doi: 10.1016/j.jchb.2018.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30017377" target="_blank">30017377</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12966527">Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mégarbané A,
|
||
Ghanem I,
|
||
Le Merrer M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Oct 15;122A(3):252-6.
|
||
doi: 10.1002/ajmg.a.20262.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12966527" target="_blank">12966527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10797420">SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper HA,
|
||
Crowe J,
|
||
Butler MG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 May 1;92(1):33-9.
|
||
doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10797420" target="_blank">10797420</a><a href="/pmc/articles/PMC5237388" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20ossification%20of%20carpal%20bones%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 (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30017377">Differences in the auxological characters of children with short stature - Differential diagnostic possibilities of hypothyreosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daniš R,
|
||
Hill M,
|
||
Sedlak P</span><br />
|
||
<span class="medgenPMjournal">Homo</span>
|
||
2018 May;69(3):139-145.
|
||
Epub 2018 Jun 1
|
||
doi: 10.1016/j.jchb.2018.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30017377" target="_blank">30017377</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27013317">Complications With the Use of BMP-2 in Scaphoid Nonunion Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brannan PS,
|
||
Gaston RG,
|
||
Loeffler BJ,
|
||
Lewis DR</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2016 May;41(5):602-8.
|
||
Epub 2016 Mar 22
|
||
doi: 10.1016/j.jhsa.2016.01.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27013317" target="_blank">27013317</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16850772">Growth assessment of children exposed to low frequency electromagnetic fields at the Abu Sultan area in Ismailia (Egypt).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fadel RA,
|
||
Salem AH,
|
||
Ali MH,
|
||
Abu-Saif AN</span><br />
|
||
<span class="medgenPMjournal">Anthropol Anz</span>
|
||
2006 Jun;64(2):211-26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16850772" target="_blank">16850772</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20ossification%20of%20carpal%20bones%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30017377">Differences in the auxological characters of children with short stature - Differential diagnostic possibilities of hypothyreosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daniš R,
|
||
Hill M,
|
||
Sedlak P</span><br />
|
||
<span class="medgenPMjournal">Homo</span>
|
||
2018 May;69(3):139-145.
|
||
Epub 2018 Jun 1
|
||
doi: 10.1016/j.jchb.2018.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30017377" target="_blank">30017377</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19232556">Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krakow D,
|
||
Vriens J,
|
||
Camacho N,
|
||
Luong P,
|
||
Deixler H,
|
||
Funari TL,
|
||
Bacino CA,
|
||
Irons MB,
|
||
Holm IA,
|
||
Sadler L,
|
||
Okenfuss EB,
|
||
Janssens A,
|
||
Voets T,
|
||
Rimoin DL,
|
||
Lachman RS,
|
||
Nilius B,
|
||
Cohn DH</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2009 Mar;84(3):307-15.
|
||
Epub 2009 Feb 19
|
||
doi: 10.1016/j.ajhg.2009.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19232556" target="_blank">19232556</a><a href="/pmc/articles/PMC2667978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17618432">Carpal-tarsal osteolysis with elbow involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McDonald K,
|
||
Toms AP,
|
||
Armon K,
|
||
Johnson K,
|
||
Marshall TJ</span><br />
|
||
<span class="medgenPMjournal">Skeletal Radiol</span>
|
||
2007 Nov;36(11):1097-101.
|
||
Epub 2007 Jul 6
|
||
doi: 10.1007/s00256-007-0346-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17618432" target="_blank">17618432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16850772">Growth assessment of children exposed to low frequency electromagnetic fields at the Abu Sultan area in Ismailia (Egypt).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fadel RA,
|
||
Salem AH,
|
||
Ali MH,
|
||
Abu-Saif AN</span><br />
|
||
<span class="medgenPMjournal">Anthropol Anz</span>
|
||
2006 Jun;64(2):211-26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16850772" target="_blank">16850772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3630662">Delayed skeletal maturation in Perthes' disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kristmundsdottir F,
|
||
Burwell RG,
|
||
Harrison MH</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Scand</span>
|
||
1987 Jun;58(3):277-9.
|
||
doi: 10.3109/17453678709146484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3630662" target="_blank">3630662</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20ossification%20of%20carpal%20bones%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33783579">Radiographic characterization of acute scaphoid fractures in children under 11 years of age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen MK,
|
||
Arkader A,
|
||
Kaplan SL,
|
||
Guariento A,
|
||
Hong S,
|
||
Moore ZR,
|
||
Nguyen JC</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2021 Aug;51(9):1690-1695.
|
||
Epub 2021 Mar 30
|
||
doi: 10.1007/s00247-021-05052-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33783579" target="_blank">33783579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30017377">Differences in the auxological characters of children with short stature - Differential diagnostic possibilities of hypothyreosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daniš R,
|
||
Hill M,
|
||
Sedlak P</span><br />
|
||
<span class="medgenPMjournal">Homo</span>
|
||
2018 May;69(3):139-145.
|
||
Epub 2018 Jun 1
|
||
doi: 10.1016/j.jchb.2018.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30017377" target="_blank">30017377</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19232556">Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krakow D,
|
||
Vriens J,
|
||
Camacho N,
|
||
Luong P,
|
||
Deixler H,
|
||
Funari TL,
|
||
Bacino CA,
|
||
Irons MB,
|
||
Holm IA,
|
||
Sadler L,
|
||
Okenfuss EB,
|
||
Janssens A,
|
||
Voets T,
|
||
Rimoin DL,
|
||
Lachman RS,
|
||
Nilius B,
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Cohn DH</span><br />
|
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<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2009 Mar;84(3):307-15.
|
||
Epub 2009 Feb 19
|
||
doi: 10.1016/j.ajhg.2009.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19232556" target="_blank">19232556</a><a href="/pmc/articles/PMC2667978" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8620844">A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis AP,
|
||
Capecchi MR</span><br />
|
||
<span class="medgenPMjournal">Development</span>
|
||
1996 Apr;122(4):1175-85.
|
||
doi: 10.1242/dev.122.4.1175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8620844" target="_blank">8620844</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3630662">Delayed skeletal maturation in Perthes' disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kristmundsdottir F,
|
||
Burwell RG,
|
||
Harrison MH</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Scand</span>
|
||
1987 Jun;58(3):277-9.
|
||
doi: 10.3109/17453678709146484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3630662" target="_blank">3630662</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20ossification%20of%20carpal%20bones%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 (5)</a></div></div>
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