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Autosomal recessive spondylometaphyseal dysplasia, Megarbane type

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Description

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

3

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Genes

External Links

  • OMIM

    613320

  • Orphanet

    401979

  • HPO
  • Medgen

    C2750075

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