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<meta name="keywords" content="C1859460, bowed humeri, bowed humerus, bowed long bone in upper arm, bowing of humerus, bowing of the humerus, finding, humeral bowing, 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="A bending or abnormal curvature of the humerus." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bowed humerus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395269</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C1859460</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Bowed humeri; Bowing of humerus; Humeral bowing</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003865">HP:0003865</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">A bending or abnormal curvature of the humerus. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<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="TLline">Bowed humerus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/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/868067" ref="tree=MeSH" title="MedGen record for Abnormal upper limb bone morphology">Abnormal upper limb bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1381737" ref="tree=MeSH" title="MedGen record for Abnormal humerus morphology">Abnormal humerus morphology</a></span><ul><li><span class="matched_ds">Bowed humerus</span></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">
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_140930"><div><strong>Kyphomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140930</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0432239</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Kyphomelic dysplasia (KMD) is an autosomal recessive disorder characterized by bowing of the limbs, primarily affecting the femurs. Affected individuals also exhibit short stature, short and wide iliac wings, horizontal acetabular roof, platyspondyly, and metaphyseal flaring. Distinctive facial features have been observed, including prominent forehead, micrognathia, microstomia, cleft palate, and low-set ears (Singh et al., 2025).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140930">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373020"><div><strong>Al-Gazali syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373020</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1836121</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality (summary by Ben-Mahmoud et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373020">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341339"><div><strong>Spondylocarpotarsal synostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341339</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848934</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</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/341339">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347149"><div><strong>Osteodysplastic primordial dwarfism, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347149</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1859452</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">RNU4atac-opathy encompasses the phenotypic spectrum of biallelic RNU4ATAC pathogenic variants, including the three historically designated clinical phenotypes microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Roifman syndrome, and Lowry-Wood syndrome, as well as varying combinations of the disease features / system involvement that do not match specific defined phenotypes. Findings present in all affected individuals include growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347149">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356595"><div><strong>Spondylometaphyseal dysplasia, Schmidt type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356595</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1866688</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Algerian type of spondylometaphyseal dysplasia (SMDALG) is an autosomal dominant disorder characterized by a short trunk and severe genu valgum. Myopia may be present. The radiologic hallmarks include moderate platyspondyly, particularly with dorsal vertebral flattening, and short ilia with narrow greater sciatic notches. There is generalized metaphyseal dysplasia of the long bones, most conspicuous in the hip and knee and associated with coxa vara and severe genu valgum. The short tubular bones are mildly affected, and epiphyses of the tubular bones are said to be normal (Matsubayashi et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356595">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_903845"><div><strong>Osteogenesis imperfecta type 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903845</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225301</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.\n\nOsteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.\n\nThere are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.\n\nThe milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/903845">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648288"><div><strong>Regressive spondylometaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648288</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4747922</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia of variable severity with or without abnormal nuclear shape and chromatin organization in blood granulocytes (Hoffmann et al., 2002; Borovik et al., 2013; Collins et al., 2020). Initial skeletal features may improve with age (Sobreira et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648288">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648393"><div><strong>Humerofemoral hypoplasia with radiotibial ray deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648393</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4747940</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648393">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794171"><div><strong>Short-rib thoracic dysplasia 21 without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794171</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561961</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Short-rib thoracic dysplasia-21 (SRTD21) is characterized by rhizomelic limb shortening with bowing of long bones and metaphyseal abnormalities, narrow chest with short broad ribs, and trident pelvis. Other features include hypotonia and global developmental delay, with corpus callosum hypoplasia and cerebellar vermis abnormalities on brain imaging, which may show the 'molar tooth' sign (Hammarsjo et al., 2017).&#13; For a general phenotypic description and discussion of genetic heterogeneity of SRTD, see SRTD1 (208500).&#13; Mutation in the KIAA0753 gene also causes orofaciodigital syndrome (OFD15; 617127) and Joubert syndrome (JBTS28; 619476), phenotypes with features overlapping those of SRTD21.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794171">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824006"><div><strong>Bent bone dysplasia syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824006</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774233</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bent bone dysplasia syndrome-2 (BBDS2) is characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, widely spaced nipples, and atrial septal defects. Abnormalities of muscle function are suggested by the presence of elbow fusions, ulnar flexion contractions at the wrist, and bilateral talipes equinovarus, as well as failure to mount a respiratory effort at birth (Barad et al., 2020).&#13; For a general phenotypic description and discussion of genetic heterogeneity of bent bone dysplasia syndrome, see BBDS1 (614592).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824006">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Al-Gazali syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bent bone dysplasia syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Humerofemoral hypoplasia with radiotibial ray deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphomelic dysplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteodysplastic primordial dwarfism, type 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 17</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Regressive spondylometaphyseal dysplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 21 without polydactyly</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocarpotarsal synostosis syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, Schmidt type</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/15652931">The choice of treatment according to the type and location of the fracture and the age of the child.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Slongo TF</span><br />
<span class="medgenPMjournal">Injury</span>
2005 Feb;36 Suppl 1:A12-9.
doi: 10.1016/j.injury.2004.12.008.
<span class="bold">PMID: </span><a href="/pubmed/15652931" target="_blank">15652931</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9444442">Paget's disease of bone: indications for treatment and goals of therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tiegs RD</span><br />
<span class="medgenPMjournal">Clin Ther</span>
1997 Nov-Dec;19(6):1309-29; discussion 1523-4.
doi: 10.1016/s0149-2918(97)80007-0.
<span class="bold">PMID: </span><a href="/pubmed/9444442" target="_blank">9444442</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(bowed%20humerus)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></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/24563967">Humeral lengthening by distraction osteogenesis: a safe procedure?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ruette P,
Lammens J</span><br />
<span class="medgenPMjournal">Acta Orthop Belg</span>
2013 Dec;79(6):636-42.
<span class="bold">PMID: </span><a href="/pubmed/24563967" target="_blank">24563967</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22173387">Factors affecting assessment of ulnar bowing in radiography.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jeong WK,
Lee DH,
Kyung BS,
Lee SH</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2012 Jan-Feb;32(1):48-53.
doi: 10.1097/BPO.0b013e31823db04a.
<span class="bold">PMID: </span><a href="/pubmed/22173387" target="_blank">22173387</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8588853">Antley-Bixler syndrome: case report and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Poddevin F,
Delobel B,
Courreges P,
Bayart M</span><br />
<span class="medgenPMjournal">Genet Couns</span>
1995;6(3):241-6.
<span class="bold">PMID: </span><a href="/pubmed/8588853" target="_blank">8588853</a></div>
<div class="nl"><a target="_blank" href="/pubmed/663200">Plastic bowing, torus and greenstick supracondylar fractures of the humerus: radiographic clues to obscure fractures of the elbow in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers LF,
Malave S Jr,
White H,
Tachdjian MO</span><br />
<span class="medgenPMjournal">Radiology</span>
1978 Jul;128(1):145-50.
doi: 10.1148/128.1.145.
<span class="bold">PMID: </span><a href="/pubmed/663200" target="_blank">663200</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1093088">Fractures of the proximal humeral epiphysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sherk HH,
Probst C</span><br />
<span class="medgenPMjournal">Orthop Clin North Am</span>
1975 Apr;6(2):401-13.
<span class="bold">PMID: </span><a href="/pubmed/1093088" target="_blank">1093088</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bowed%20humerus%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 (14)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/21135425">Osteomalacia: a case series of patients with atypical clinical orthopaedic presentations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fok AW,
Ng TP</span><br />
<span class="medgenPMjournal">Hong Kong Med J</span>
2010 Dec;16(6):476-9.
<span class="bold">PMID: </span><a href="/pubmed/21135425" target="_blank">21135425</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11214690">Patterson-Lowry rhizomelic dysplasia: a potentially lethal bone dysplasia?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kamoda T,
Nakajima R,
Matsui A,
Nishimura G</span><br />
<span class="medgenPMjournal">Pediatr Radiol</span>
2001 Feb;31(2):81-3.
doi: 10.1007/s002470000401.
<span class="bold">PMID: </span><a href="/pubmed/11214690" target="_blank">11214690</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10218180">Musculoskeletal manifestations of the Antley-Bixler syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rumball KM,
Pang E,
Letts RM</span><br />
<span class="medgenPMjournal">J Pediatr Orthop B</span>
1999 Apr;8(2):139-43.
<span class="bold">PMID: </span><a href="/pubmed/10218180" target="_blank">10218180</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9444442">Paget's disease of bone: indications for treatment and goals of therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tiegs RD</span><br />
<span class="medgenPMjournal">Clin Ther</span>
1997 Nov-Dec;19(6):1309-29; discussion 1523-4.
doi: 10.1016/s0149-2918(97)80007-0.
<span class="bold">PMID: </span><a href="/pubmed/9444442" target="_blank">9444442</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2199870">Prenatal diagnosis of chondrodysplasia punctata by sonography.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Duff P,
Harlass FE,
Milligan DA</span><br />
<span class="medgenPMjournal">Obstet Gynecol</span>
1990 Sep;76(3 Pt 2):497-500.
<span class="bold">PMID: </span><a href="/pubmed/2199870" target="_blank">2199870</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bowed%20humerus%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/27662385">Initial Experience With Percutaneous IM Rodding of the Humeri in Children With Osteogenesis Imperfecta.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grossman LS,
Price AL,
Rush ET,
Goodwin JL,
Wallace MJ,
Esposito PW</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2018 Oct;38(9):484-489.
doi: 10.1097/BPO.0000000000000856.
<span class="bold">PMID: </span><a href="/pubmed/27662385" target="_blank">27662385</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17028440">Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shanske AL,
Puri M,
Marshall B,
Saenger P</span><br />
<span class="medgenPMjournal">Horm Res</span>
2007;67(2):61-6.
Epub 2006 Oct 6
doi: 10.1159/000096087.
<span class="bold">PMID: </span><a href="/pubmed/17028440" target="_blank">17028440</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bowed%20humerus%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35092157">Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Uludağ Alkaya D,
Uyguner ZO,
Güneş N,
Tüysüz B</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 May;188(5):1639-1646.
Epub 2022 Jan 29
doi: 10.1002/ajmg.a.62664.
<span class="bold">PMID: </span><a href="/pubmed/35092157" target="_blank">35092157</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15488519">Traumatic bowing of the forearm bones in roller machine injuries.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sen RK,
Jain JK,
Nagi ON</span><br />
<span class="medgenPMjournal">Injury</span>
2004 Nov;35(11):1202-6.
doi: 10.1016/j.injury.2003.10.024.
<span class="bold">PMID: </span><a href="/pubmed/15488519" target="_blank">15488519</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10218180">Musculoskeletal manifestations of the Antley-Bixler syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rumball KM,
Pang E,
Letts RM</span><br />
<span class="medgenPMjournal">J Pediatr Orthop B</span>
1999 Apr;8(2):139-43.
<span class="bold">PMID: </span><a href="/pubmed/10218180" target="_blank">10218180</a></div>
<div class="nl"><a target="_blank" href="/pubmed/472236">Familial congenital bowing with short bones.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hall BD,
Spranger JW</span><br />
<span class="medgenPMjournal">Radiology</span>
1979 Sep;132(3):611-4.
doi: 10.1148/132.3.611.
<span class="bold">PMID: </span><a href="/pubmed/472236" target="_blank">472236</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1093088">Fractures of the proximal humeral epiphysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sherk HH,
Probst C</span><br />
<span class="medgenPMjournal">Orthop Clin North Am</span>
1975 Apr;6(2):401-13.
<span class="bold">PMID: </span><a href="/pubmed/1093088" target="_blank">1093088</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bowed%20humerus%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34995264">Retrograde Application of Humerus Fassier-Duval Rod in Osteogenesis Imperfecta: A New Surgical Technique.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marwan Y,
Abu Dalu K,
Hamdy RC,
Janelle C,
Fassier F</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2022 Feb 1;42(2):e224-e228.
doi: 10.1097/BPO.0000000000002023.
<span class="bold">PMID: </span><a href="/pubmed/34995264" target="_blank">34995264</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26775092">Relationship of cubitus varus and ulnar varus deformity in supracondylar humeral fractures according to the age at injury.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cha SM,
Shin HD,
Ahn JS</span><br />
<span class="medgenPMjournal">J Shoulder Elbow Surg</span>
2016 Feb;25(2):289-96.
doi: 10.1016/j.jse.2015.10.014.
<span class="bold">PMID: </span><a href="/pubmed/26775092" target="_blank">26775092</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18056502">Radial head dislocation and subluxation in osteogenesis imperfecta.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fassier AM,
Rauch F,
Aarabi M,
Janelle C,
Fassier F</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
2007 Dec;89(12):2694-704.
doi: 10.2106/JBJS.F.01287.
<span class="bold">PMID: </span><a href="/pubmed/18056502" target="_blank">18056502</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9664207">The Antley-Bixler syndrome. A new case without radiohumeral synostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chabchoub A,
Siala-Gaigi S,
Marrakchi Z,
Jebnoun S,
Ayachi R,
Khrouf N</span><br />
<span class="medgenPMjournal">Genet Couns</span>
1998;9(2):113-8.
<span class="bold">PMID: </span><a href="/pubmed/9664207" target="_blank">9664207</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9444442">Paget's disease of bone: indications for treatment and goals of therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tiegs RD</span><br />
<span class="medgenPMjournal">Clin Ther</span>
1997 Nov-Dec;19(6):1309-29; discussion 1523-4.
doi: 10.1016/s0149-2918(97)80007-0.
<span class="bold">PMID: </span><a href="/pubmed/9444442" target="_blank">9444442</a></div>
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