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262 Possible Causes for Metaphyseal Fraying, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    One of the signs of rickets that doctors look for is cupping and fraying at the metaphyses when seen on X-ray.[wikivisually.com] greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia[rarediseases.info.nih.gov] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net]

  • Dyggve-Melchior-Clausen Syndrome

    greater sacrosciatic notches 0003375 Prominent sternum 0000884 Severe global developmental delay 0011344 Short femoral neck Short neck of thighbone 0100864 Short metacarpal[rarediseases.info.nih.gov] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[dovemed.com]

    Missing: Metaphyseal Fraying
  • Spondyloepimetaphyseal Dysplasia Type Strudwick 

    One of the signs of rickets that doctors look for is cupping and fraying at the metaphyses when seen on X-ray.[wikivisually.com] greater sacrosciatic notches ; Pectus carinatum ; Pes planus ; Platyspondyly ; Protuberant abdomen ; Scoliosis ; Severe short stature ; Spondyloepimetaphyseal dysplasia Associated[mousephenotype.org] greater sacrosciatic notches 0003375 Pectus carinatum Pigeon chest 0000768 Pes planus Flat feet Flat foot [ more ] 0001763 Protuberant abdomen Belly sticks out Extended belly[rarediseases.info.nih.gov]

    Missing: Severely Disproportionate Short Stature
  • Anauxetic Dysplasia

    One of the signs of rickets that doctors look for is cupping and fraying at the metaphyses when seen on X-ray.[wikivisually.com] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] Because of their blood supply and vascular stasis, metaphyses of long bones are prone to hematogenous spread of osteomyelitis in children.[wikivisually.com]

    Missing: Narrow Greater Sacrosciatic Notch
  • X-Linked Spondyloepimetaphyseal Dysplasia

    Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately[rarediseases.info.nih.gov]

    Missing: Narrow Greater Sacrosciatic Notch
  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur[orpha.net] greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[rarediseases.info.nih.gov] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[rarediseases.info.nih.gov]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    One of the signs of rickets that doctors look for is cupping and fraying at the metaphyses when seen on X-ray.[wikivisually.com] greater sacrosciatic notches Microdontia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Azoospermia Opacification of the corneal stroma Lymphopenia Intellectual[mendelian.co] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

  • Growth Failure

    […] of the metaphyses and a widened epiphyseal plate. 26 Management Nutritional rickets is managed by advice about a balanced diet, correction of predisposing risk factors and[slideplayer.com] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net] The short stature may be either proportionate or disproportionate, severe or mild, and have pre-natal and/or post-natal origin ( 7, 8 ).[frontiersin.org]

    Missing: Narrow Greater Sacrosciatic Notch
  • Mucopolysaccharidosis

    OBJECTIVE: The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls.[…][ncbi.nlm.nih.gov]

    Missing: Metaphyseal Fraying Severely Disproportionate Short Stature
  • Dyssegmental Dysplasia Type Rolland-Desbuquois

    […] band Alternating radiolucent and dense metaphyseal bands Solitary dense metaphyseal band Dense vertical metaphyseal lines Fraying of the metaphyses Cupping of metaphyses[gentili.net] […] chest ; Narrow greater sacrosciatic notches ; Neonatal short-limb short stature ; Round face ; Severe short stature ; Shallow orbits ; Short long bone ; Short neck ; Short[mousephenotype.org] Features include growth plate widening, decreased density, and irregularities in the zone of provisional calcification, metaphyseal cupping and fraying, increased epi-metaphyseal[rrnursingschool.biz]

    Missing: Severely Disproportionate Short Stature