Brachmann-de Lange syndrome in sibs. Issue 10 (October 1987)

• Record Type: Journal Article
• Authors: Naguib, K K; Teebi, A S; Al-Awadi, S A; Marafie, M J
• Is Part Of: Journal of medical genetics. Volume 24:Issue 10(1987)
• Page Start: 627
• Page End: 629
• Publication Date: 1987-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.24.10.627
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We report an Arab family of phenotypically normal first cousin parents with two offspring showing variable manifestations of Brachmann-de Lange syndrome. The proband, who had many diagnostic symptoms of the syndrome with apparently normal chromosomes, died at the age of three months. His sister was less severely affected and lived for six years. The genetic basis of Brachmann-de Lange syndrome is discussed and homozygosity for an autosomal recessive allelle is suggested as an underlying cause in some cases.