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Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

✍ Scribed by Alain Verloes; Jean-Paul Misson; Philippe Gillet; Clarisse Baumann; Micheline Spiritus; Manuel Deprez


Book ID
113987335
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
278 KB
Volume
46
Category
Article
ISSN
0003-3995

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We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, u