作者: David Chitayat , Kathy A Hodgkinson , Shirley Blaichman , Moy-Fong Chen , Gordon V Watters
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摘要: 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.