A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?. Issue 10 (October 1987)

• Record Type: Journal Article
• Authors: Farag, T I; Al-Awadi, S A; Hunt, M C; Satyanath, S; Zahran, M; Usha, R; Uma, R
• Is Part Of: Journal of medical genetics. Volume 24:Issue 10(1987)
• Page Start: 597
• Page End: 601
• Publication Date: 1987-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.24.10.597
• Languages: English
• ISSNs: 1468-6244

Abstract

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.