| Literature DB >> 1951463 |
D Chitayat1, K A Hodgkinson, S Blaichman, M E Chen, G V Watters, S Khalife, J G Hall.
Abstract
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.Entities:
Mesh：
Year: 1991 PMID： 1951463 DOI： 10.1002/ajmg.1320410114
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299