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32 Possible Causes for Marked Metaphyseal Flaring of Long Bones

  • Habrodysplasia

    There was recently a documentary on Channel 4 (in Britain) that highlighted an individual with Fibrodysplasia Ossificans Progressiva (FOP), a progressive bone disease in which the bodies natural repair mechanism causes fibrous tissues (including ligaments, tendons and muscles) to become ossified when damaged or hurt.[…][]

  • Achondroplasia

    In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. The etiology of SP remains unclear, and yet,[…][]

  • 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[…][]

  • Anauxetic Dysplasia

    A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo.[] Other findings include congenital bowing of other long bones, narrow thorax, platyspondyly, micrognathia, and skin dimples.[] Congenital bowing of long bones can be an isolated finding or associated with other anomalies, so the purpose of reporting... more Evaluation of the scapula can be useful[]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    Deficiency in the PTS2 protein import pathway due to mutations in PEX7 gene results in the rhizomelic chondrodysplasia punctata (RCDP) type 1. In the present study, we have reported a novel missense mutation, W75R, in the PEX7 gene in an Iranian patient with the RCDP type 1. The inability of PEX7 protein to[…][]

  • Nail-Patella Syndrome

    […] with severe shortening of the long bones, both proximal and distal segments being involved, severe foramen magnum and spinal stenosis, flaring of the metaphyses, and large[] This child had unique clinical and radiographic features distinct from both achondroplasia and hypochondroplasia including more marked short stature than seen in achondroplasia[]

  • Hereditary Hyperphosphatasia

    The long tubular bones do not exhibit metaphyseal flare, but rather have a policeman's nightstick shape and show diaphyseal endostosis.[] The long bones manifest increased density in the diaphyseal region, with lack of modeling in the metaphyseal area producing an Erlenmeyer-flask deformity.[] Marked flaring of the iliac bones and coxa valga are noted, as well as fused and eroded carpal bones, wide elongated middle phalanges, and increased interpediculate distances[]

  • Kyphomelic Dysplasia

    […] of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspondyly.[] A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo.[] The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening[]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Roentgenologic findings include short long bones, wide and flared metaphyses with irregularities, delayed epiphyseal ossification, platyspondyly and morphological changes[] We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    The changes in the long bones were greatest in the proximal limbs and most marked in the proximal femurs.[] Radiographic studies showed metaphyseal flaring and irregularity and delay and irregularity of epiphyseal ossification.[] The metaphyses became increasingly irregular with age and developed lytic areas.[]

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