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An apparently new mental retardation syndrome in three elderly sisters

✍ Scribed by Denis L. Viljoen; Jennifer Kallis; Stella Voges; Anna-Susan Marais; Irene van Vuuren


Book ID
115090218
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
459 KB
Volume
40
Category
Article
ISSN
0009-9163

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New autosomal recessive syndrome of spar
✍ Kaler, Stephen G. ;Garrity, Ann M. ;Stern, Harvey J. ;Rosenbaum, Kenneth N. ;Orr πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 585 KB

We report on 2 Mennonite sisters with a syndrome of sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity, and hypotonia. Their asymptomatic consanguineous parents (inbreeding coefficient F=1/64) have 6 other offspring, 3 of whom died in infancy of type I1 osteogenesi