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A case of atelosteogenesis.
  1. K Temple,
  2. C A Hall,
  3. L Chitty,
  4. M Baraitser
  1. Department of Clinical Genetics, Hospitals for Sick Children, London.

    Abstract

    Atelosteogenesis is a rare chondrodysplasia characterised by rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. The diagnosis is confirmed radiologically: short, distally tapering humeri, absent or hypoplastic fibulae, deficient vertebral ossification with coronal clefting, and anarchic ossification of phalanges are characteristic findings. We report a male child with this condition born to first cousin Bengali parents.

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