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Case Reports
. 1987 Oct;24(10):597-601.
doi: 10.1136/jmg.24.10.597.

A Family With Spondyloepimetaphyseal Dwarfism: A 'New' Dysplasia or Kniest Disease With Autosomal Recessive Inheritance?

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Case Reports

A Family With Spondyloepimetaphyseal Dwarfism: A 'New' Dysplasia or Kniest Disease With Autosomal Recessive Inheritance?

T I Farag et al. J Med Genet. .
Free PMC article

Abstract

We present an Arab family with some features of Kniest disease. The proband was a six year old boy with rhizomelic short limbed dwarfism, 'dish-like' facies, cleft palate, deafness, and camptodactyly. Most radiological changes were compatible with Kniest disease. Two younger sibs, similarly affected, had died at a few months old, and the pedigree shows strong evidence of autosomal recessive inheritance, unlike previously reported cases of Kniest disease which have shown autosomal dominant inheritance.

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