DYSSEGMENTAL DWARFISM - REPORT ON 2 CASES

  • 1 January 1981
    • journal article
    • research article
    • Vol. 21  (4) , 190-194
Abstract
Two cases of dyssegmental dwarfism, a rare lethal form of dwarfism, are reported. Both human male newborns died from asphyxia immediately after delivery. Its features are malformations of the 1st visceral arch (Pierre-Robin-syndrome), and of all extremities (camptomicromelia) and severe malformations of the spine (anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. These malformations are due partly to defective enchondral ossification. The disease is presumably autosomal recessive.

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