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An apparently new mental retardation syndrome in three elderly sisters

1991; Wiley; Volume: 40; Issue: 1 Linguagem: Inglês

10.1111/j.1399-0004.1991.tb03062.x

1399-0004

Denis Viljoen, Jennifer Kallis, Stella Voges, Anna‐Susan Marais, Irene van Vuuren,

Genomic variations and chromosomal abnormalities

Three elderly sisters with profound mental retardation in association with the clinical features of microcephaly, short stature, brachydactyly type D, flattened occiput, down‐slanting palpebral fissures, low‐set large ears, broad prominent nose and kyphoscoliosis have been investigated. Each was more than 60 years of age and their clinical features were strikingly similar. The disorder has several manifestations in common with Rubenstein‐Taybi syndrome and appears to be inherited as an autosomal recessive in this family.