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Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

✍ Scribed by Beals, Rodney K. ;Weleber, Richard G.


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
77 KB
Volume
131A
Category
Article
ISSN
0148-7299

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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