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Velocardiofacial syndrome presenting as distal arthrogryposis

✍ Scribed by Koen Devriendt; Ann Swillen; Marc Gewillig; Jean-Pierre Fryns; Pierre Moens; Luc Smet

Book ID
106120523
Publisher
Springer
Year
2004
Tongue
English
Weight
219 KB
Volume
163
Category
Article
ISSN
0340-6997

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Syndrome of mental retardation and dista
Syndrome of mental retardation and distal arthrogryposis in sibs
✍ Chitayat, David ;Hodgkinson, Kathy A. ;Blaichman, Shirley ;Chen, Moy-Fong ;Watte πŸ“‚ Article πŸ“… 1991 πŸ› John Wiley and Sons 🌐 English βš– 356 KB πŸ‘ 2 views

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 sy