An apparently new mental retardation syndrome in three elderly sisters.
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.
Viljoen
D L
DL
Department of Human Genetics, University of Cape Town, South Africa.
Kallis
J
J
Voges
S
S
Marais
A S
AS
van Vuuren
I
I
D000015:Abnormalities, Multiple / Q000145:classification* / Q000235:genetics / Q000473:pathology; D000368:Aged; D005260:Female; D005532:Foot Deformities, Congenital / Q000145:classification* / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000145:classification* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000145:classification* / Q000235:genetics / Q000473:pathology; D008831:Microcephaly / Q000145:classification* / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome