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<!--
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UID=374176
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ConceptID=C1839254
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoplasia of the capital femoral epiphysis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374176</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.">C1839254</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Capital femoral epiphyses, hypoplasia of; Small capital femoral epiphyses; Small femoral capital epiphyses; Small proximal femoral epiphyses</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:0003090">HP:0003090</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">Underdevelopment of the proximal epiphysis of the femur. [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 mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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">Hypoplasia of the capital femoral epiphysis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868758" ref="tree=MeSH" title="MedGen record for Abnormal appendicular skeleton morphology">Abnormal appendicular skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866811" ref="tree=MeSH" title="MedGen record for Abnormal long bone morphology">Abnormal long bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867251" ref="tree=MeSH" title="MedGen record for Abnormal epiphysis morphology">Abnormal epiphysis morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867483" ref="tree=MeSH" title="MedGen record for Absent epiphyses">Absent epiphyses</a></span><ul><li><span class="TLline"><a href="/medgen/870804" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the capital femoral epiphysis">Aplasia/Hypoplasia of the capital femoral epiphysis</a></span><ul><li><span class="matched_ds">Hypoplasia of the capital femoral epiphysis</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">
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||
<div class="divPopper rprt" id="rdis_43376"><div><strong>Mucopolysaccharidosis, MPS-IV-B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43376</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.">C0086652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43376">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_164078"><div><strong>Schimke immuno-osseous dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164078</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:">C0877024</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322238"><div><strong>Spondyloepiphyseal dysplasia, Reardon type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322238</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.">C1833603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324620"><div><strong>Spondylometaphyseal dysplasia, A4 type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324620</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.">C1836862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spondylometaphyseal dysplasias are a relatively common, heterogeneous group of disorders characterized by spinal and metaphyseal changes of variable pattern and severity. The classification of spondylometaphyseal dysplasias of Maroteaux and Spranger (1991) was based on changes of the femoral neck and the shape of vertebral anomalies. In this classification, type A4 referred to a form with severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324620">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373381"><div><strong>Spondyloepiphyseal dysplasia with congenital joint dislocations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373381</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.">C1837657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chondrodysplasia with congenital joint dislocations, CHST3-related (CDCJD-CHST3) is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373381">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_341455"><div><strong>Saldino-Mainzer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341455</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.">C1849437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341455">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350960"><div><strong>Spondyloepimetaphyseal dysplasia with multiple dislocations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350960</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.">C1863732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350960">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382811"><div><strong>Bone fragility with contractures, arterial rupture, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382811</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.">C2676285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">BCARD syndrome is an autosomal recessive connective tissue disorder characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness. Affected individuals also exhibit recognizable craniofacial dysmorphisms, and variable skin features have been observed, including reduced palmar creases, soft skin with easy bruising, and blistering. Developmental delay, which is present in most patients, may be attributable to sensory deficits or medical complications (Ewans et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382811">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443957"><div><strong>COG1 congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443957</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.">C2931011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443957">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462476"><div><strong>Meier-Gorlin syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462476</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.">C3151126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nAbnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMeier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462476">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_479777"><div><strong>Geleophysic dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>479777</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.">C3278147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. The characteristic clinical findings are likely to be present in the first year of life. Cardiac, airway, and pulmonary involvement result in death before age five years in approximately 33% of individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/479777">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762085"><div><strong>Spondyloepiphyseal dysplasia tarda, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762085</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.">C3541456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of long bones (epiphyses) in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10.\n\nMales with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Their adult height ranges from 4 feet 6 inches (137 cm) to 5 feet 4 inches (163 cm). Impaired growth of the spinal bones (vertebrae) primarily causes the short stature. Spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). These spinal problems also cause back pain in people with this condition. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short torso and neck, and their arms are disproportionately long compared to their height.\n\nOther skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); multiple abnormalities of the epiphyses, including a short upper end of the thigh bone (femoral neck); and a broad, barrel-shaped chest. A painful joint condition called osteoarthritis that typically occurs in older adults often develops in early adulthood in people with X-linked spondyloepiphyseal dysplasia tarda and worsens over time, most often affecting the hips, knees, and shoulders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762085">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_1620874"><div><strong>Epiphyseal dysplasia, multiple, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1620874</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.">C4540251</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/1620874">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778926"><div><strong>Neurofacioskeletal syndrome with or without renal agenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778926</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.">C5543070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes. Renal agenesis, unilateral or bilateral, has also been observed in some patients (Schneeberger et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778926">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone fragility with contractures, arterial rupture, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">COG1 congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1620874" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphyseal dysplasia, multiple, 7</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_479777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Geleophysic dysplasia 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="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_43376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-IV-B</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_1778926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofacioskeletal syndrome with or without renal agenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Saldino-Mainzer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schimke immuno-osseous dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia with multiple dislocations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia tarda, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia with congenital joint dislocations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, Reardon type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, A4 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/31628567">Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Kaissi A,
|
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Kenis V,
|
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Jemaa LB,
|
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Sassi H,
|
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Shboul M,
|
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Grill F,
|
||
Ganger R,
|
||
Kircher SG</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
2020 Feb;39(2):553-560.
|
||
Epub 2019 Oct 18
|
||
doi: 10.1007/s10067-019-04783-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31628567" target="_blank">31628567</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28671425">Slipped Capital Femoral Epiphysis: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peck DM,
|
||
Voss LM,
|
||
Voss TT</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Jun 15;95(12):779-784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28671425" target="_blank">28671425</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1871029">Proximal femoral focal deficiency: evaluation and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bryant DD 3rd,
|
||
Epps CH Jr</span><br />
|
||
<span class="medgenPMjournal">Orthopedics</span>
|
||
1991 Jul;14(7):775-84.
|
||
doi: 10.3928/0147-7447-19910701-08.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1871029" target="_blank">1871029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypoplasia%20of%20the%20capital%20femoral%20epiphysis)%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 (6)</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/31169643">Natural History of Slipped Capital Femoral Epiphysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathew SE,
|
||
Larson AN</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S23-S27.
|
||
doi: 10.1097/BPO.0000000000001369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31169643" target="_blank">31169643</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31059403">Radiography, CT, and MRI of Hip and Lower Limb Disorders in Children and Adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva MS,
|
||
Fernandes ARC,
|
||
Cardoso FN,
|
||
Longo CH,
|
||
Aihara AY</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2019 May-Jun;39(3):779-794.
|
||
doi: 10.1148/rg.2019180101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31059403" target="_blank">31059403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29627275">Growth impairment in mucopolysaccharidoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Melbouci M,
|
||
Mason RW,
|
||
Suzuki Y,
|
||
Fukao T,
|
||
Orii T,
|
||
Tomatsu S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2018 May;124(1):1-10.
|
||
Epub 2018 Mar 16
|
||
doi: 10.1016/j.ymgme.2018.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29627275" target="_blank">29627275</a><a href="/pmc/articles/PMC5966322" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22371532">Arthroscopy of the hip for paediatric and adolescent disorders: current concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jayakumar P,
|
||
Ramachandran M,
|
||
Youm T,
|
||
Achan P</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Br</span>
|
||
2012 Mar;94(3):290-6.
|
||
doi: 10.1302/0301-620X.94B3.26957.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22371532" target="_blank">22371532</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18399603">Slipped capital femoral epiphysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loder RT,
|
||
Aronsson DD,
|
||
Weinstein SL,
|
||
Breur GJ,
|
||
Ganz R,
|
||
Leunig M</span><br />
|
||
<span class="medgenPMjournal">Instr Course Lect</span>
|
||
2008;57:473-98.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18399603" target="_blank">18399603</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20capital%20femoral%20epiphysis%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 (65)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31567543">Orthopaedic Manifestations in Turner Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acosta AM,
|
||
Steinman SE,
|
||
White KK</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2019 Dec 1;27(23):e1021-e1028.
|
||
doi: 10.5435/JAAOS-D-17-00796.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31567543" target="_blank">31567543</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31169643">Natural History of Slipped Capital Femoral Epiphysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathew SE,
|
||
Larson AN</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S23-S27.
|
||
doi: 10.1097/BPO.0000000000001369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31169643" target="_blank">31169643</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28671425">Slipped Capital Femoral Epiphysis: Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peck DM,
|
||
Voss LM,
|
||
Voss TT</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Jun 15;95(12):779-784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28671425" target="_blank">28671425</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25934907">The limping child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herman MJ,
|
||
Martinek M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2015 May;36(5):184-95; quiz 196-7.
|
||
doi: 10.1542/pir.36-5-184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25934907" target="_blank">25934907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23079788">Report of breakout session: Slipped capital femoral epiphysis management 2011.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim YJ,
|
||
Sierra RJ;
|
||
Session Participants</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2012 Dec;470(12):3464-6.
|
||
doi: 10.1007/s11999-012-2587-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23079788" target="_blank">23079788</a><a href="/pmc/articles/PMC3492624" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20capital%20femoral%20epiphysis%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 (65)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38415747">A Role for Thyroid Testing in Slipped Capital Femoral Epiphysis? 32% Rate of Abnormal Values in Tested Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nielsen E,
|
||
Leiby B,
|
||
Blumberg TJ</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2024 May-Jun 01;44(5):303-307.
|
||
Epub 2024 Feb 29
|
||
doi: 10.1097/BPO.0000000000002630.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38415747" target="_blank">38415747</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30653105">Slipped capital femoral epiphysis in an adult with congenital hypopituitarism: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang YF,
|
||
Wang LS,
|
||
Zhang S,
|
||
Gao YH,
|
||
Liu JG,
|
||
Qi X</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 Jan;98(3):e13997.
|
||
doi: 10.1097/MD.0000000000013997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30653105" target="_blank">30653105</a><a href="/pmc/articles/PMC6370171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23723284">Slipped capital femoral epiphysis associated with vitamin D deficiency: a series of 15 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Madhuri V,
|
||
Arora SK,
|
||
Dutt V</span><br />
|
||
<span class="medgenPMjournal">Bone Joint J</span>
|
||
2013 Jun;95-B(6):851-4.
|
||
doi: 10.1302/0301-620X.95B6.30806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23723284" target="_blank">23723284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12208918">Prospective reevaluation of the association between thrombotic diathesis and legg-perthes disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hresko MT,
|
||
McDougall PA,
|
||
Gorlin JB,
|
||
Vamvakas EC,
|
||
Kasser JR,
|
||
Neufeld EJ</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
2002 Sep;84(9):1613-8.
|
||
doi: 10.2106/00004623-200209000-00014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12208918" target="_blank">12208918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8771006">Bone disease in patients receiving growth hormone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watkins SL</span><br />
|
||
<span class="medgenPMjournal">Kidney Int Suppl</span>
|
||
1996 Jan;53:S126-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8771006" target="_blank">8771006</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20capital%20femoral%20epiphysis%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29627275">Growth impairment in mucopolysaccharidoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Melbouci M,
|
||
Mason RW,
|
||
Suzuki Y,
|
||
Fukao T,
|
||
Orii T,
|
||
Tomatsu S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2018 May;124(1):1-10.
|
||
Epub 2018 Mar 16
|
||
doi: 10.1016/j.ymgme.2018.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29627275" target="_blank">29627275</a><a href="/pmc/articles/PMC5966322" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28663349">A nationwide cohort study of slipped capital femoral epiphysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry DC,
|
||
Metcalfe D,
|
||
Costa ML,
|
||
Van Staa T</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2017 Dec;102(12):1132-1136.
|
||
Epub 2017 Jun 29
|
||
doi: 10.1136/archdischild-2016-312328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28663349" target="_blank">28663349</a><a href="/pmc/articles/PMC5754864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22327445">Outcomes of slipped capital femoral epiphysis treated with in situ pinning.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larson AN,
|
||
Sierra RJ,
|
||
Yu EM,
|
||
Trousdale RT,
|
||
Stans AA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2012 Mar;32(2):125-30.
|
||
doi: 10.1097/BPO.0b013e318246efcb.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22327445" target="_blank">22327445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19242240">Slipped capital femoral epiphysis update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gholve PA,
|
||
Cameron DB,
|
||
Millis MB</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2009 Feb;21(1):39-45.
|
||
doi: 10.1097/MOP.0b013e328320acea.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19242240" target="_blank">19242240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16670536">The epidemiology of slipped capital femoral epiphysis: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lehmann CL,
|
||
Arons RR,
|
||
Loder RT,
|
||
Vitale MG</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2006 May-Jun;26(3):286-90.
|
||
doi: 10.1097/01.bpo.0000217718.10728.70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16670536" target="_blank">16670536</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20capital%20femoral%20epiphysis%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 (38)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32828933">Femoral Derotation Osteotomy Improves Hip and Spine Function in Patients With Increased or Decreased Femoral Torsion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hatem M,
|
||
Khoury AN,
|
||
Erickson LR,
|
||
Jones AL,
|
||
Martin HD</span><br />
|
||
<span class="medgenPMjournal">Arthroscopy</span>
|
||
2021 Jan;37(1):111-123.
|
||
Epub 2020 Aug 21
|
||
doi: 10.1016/j.arthro.2020.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32828933" target="_blank">32828933</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30731319">Gait abnormalities following slipped capital femoral epiphysis treated with in situ fixation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Henry B,
|
||
Detrembleur C,
|
||
Mahaudens P,
|
||
Boulet S,
|
||
Docquier PL</span><br />
|
||
<span class="medgenPMjournal">Gait Posture</span>
|
||
2019 Mar;69:156-161.
|
||
Epub 2019 Jan 29
|
||
doi: 10.1016/j.gaitpost.2019.01.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30731319" target="_blank">30731319</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28824187">Residual Femoral Deformity and Femoroacetabular Impingement after Intertrochanteric Osteotomy for Slipped Capital Femoral Epiphysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujii Y,
|
||
Endo H,
|
||
Mitani S,
|
||
Akazawa H,
|
||
Tetsunaga T,
|
||
Miyake T,
|
||
Yamada K,
|
||
Aoki K,
|
||
Ozaki T</span><br />
|
||
<span class="medgenPMjournal">Acta Med Okayama</span>
|
||
2017 Aug;71(4):315-323.
|
||
doi: 10.18926/AMO/55308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28824187" target="_blank">28824187</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28663349">A nationwide cohort study of slipped capital femoral epiphysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry DC,
|
||
Metcalfe D,
|
||
Costa ML,
|
||
Van Staa T</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2017 Dec;102(12):1132-1136.
|
||
Epub 2017 Jun 29
|
||
doi: 10.1136/archdischild-2016-312328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28663349" target="_blank">28663349</a><a href="/pmc/articles/PMC5754864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/22327445">Outcomes of slipped capital femoral epiphysis treated with in situ pinning.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Larson AN,
|
||
Sierra RJ,
|
||
Yu EM,
|
||
Trousdale RT,
|
||
Stans AA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2012 Mar;32(2):125-30.
|
||
doi: 10.1097/BPO.0b013e318246efcb.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22327445" target="_blank">22327445</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20capital%20femoral%20epiphysis%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 (33)</a></div></div>
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