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Syndrome of mental retardation and distal arthrogryposis in sibs

✍ Scribed by Chitayat, David ;Hodgkinson, Kathy A. ;Blaichman, Shirley ;Chen, Moy-Fong ;Watters, Gordon V. ;Khalife, Samir ;Hall, Judith G.

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 356 KB
Volume: 41
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320410114

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✦ Synopsis

Two sisters presented with a syndrome of characteristic facial anomalies and distal arthrogryposis. The older sister is now 4 years old and is severely mentally retarded. Her sister died of respiratory failure due to hypoplastic lungs shortly after birth. The occurrence of this potentially lethal syndrome in 2 sisters with unaffected parents suggests autosomal recessive inheritance.

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