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57 Possible Causes for Metaphyseal Fraying

  • X-Linked Hypophosphatemia

    Diagnostic methods Diagnosis is based on clinical and biochemical findings, and typical rickets/osteomalacia radiographic feautures (in children: fraying and cupping of metaphyseal[]

  • Hypocalcemic Vitamin D-Dependent Rickets Type 1B

    , irregular metaphyses; Curvatures of the femur, tibia, fibula; Lower limb deformities; Bowing of the legs; Enlargement of the wrists; Enlargement of the ankles; Subperiosteal[] [Skull]; Widened cranial sutures; Posterior flattening of the skull; [Limbs]; Delayed opacification of the epiphyses; Widened, distorted epiphyses; 'Bulging' epiphyses; Frayed[]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Homepage Rare diseases Search Search for a rare disease Spondyloepimetaphyseal dysplasia, Shohat type Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked[…][]

  • Mohr Syndrome

    Mohr syndrome, one of the numerous forms of oro-facial-digital syndrome (OFDS), is a rare autosomal recessive disorder characterized by specific anomalies of the oral cavity, face, and digits. The diagnosis is clinical and hence a thorough physical exam is essential. Mohr syndrome is the second of at least nine[…][]

  • Sialic Acid Storage Disease, Infantile Form

    Abstract Similarities in biochemical findings have suggested that Salla disease (SD) and the infantile form of sialic acid storage disease (ISSD) could represent allelic disorders, despite their drastically different clinical phenotypes. SD and ISSD are both characterized by lysosomal storage of free N-acetyl neuraminic[…][]

  • SPONASTRIME Dysplasia

    Am J Med Genet A. 2008 Feb 15;146A(4):468-73. doi: 10.1002/ajmg.a.32155. Author information 1 Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware 19803, USA. [email protected] Abstract SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal[…][]

  • Schneckenbecken Dysplasia

    Abstract To our knowledge this is the first report of Schneckenbecken dysplasia with the development of hydrops early in the second trimester. The radiological findings showed the typical hypoplastic iliac bones with medial extension and very flattened, on lateral view, oval-shaped vertebral bodies and short long[…][]

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Summary Epidemiology HHRH has been described in several kindreds and in a few sporadic cases from Europe, North America and Japan. Clinical description Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of[…][]

  • X-Linked Spondyloepimetaphyseal Dysplasia

    Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. Cho SY 1 , Bae JS 2 , Kim NKD 3 , Forzano F 4 , Girisha KM 5 , Baldo C 6 , Faravelli F 4 , Cho TJ 7 , Kim D 8 , Lee KY 8 , Ikegawa S 9 , Shim JS 10 , Ko AR 11 , Miyake N 12 , Nishimura G 13 , Superti-Furga A 14 , Spranger J 15 , Kim[…][]

  • Rickets

    In all children, the radiological examination demonstrated diffuse bony sclerosis and metaphyseal splaying and fraying of long bones.[] There is cupping and fraying of all of the metaphyses (white arrows) in this skeletally-immature child. For more information, click on the link if you see this icon[] At further examination, special attention should be paid to osteopenia and cupping and fraying at the metaphyses on X-rays.[]

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