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Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB
R Pallotta1, T Ehresmann, P Fusilli
1Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, Section of Preventive and Social Pediatrics, "G. D'Annunzio" University, Chieti, Italy. pallotta@unich.it
American Journal of Medical Genetics
|January 9, 2001
Abstract:
We present a family affected with distal arthrogryposis type IIB (DA IIB) in three generations. The coincidental finding of Dandy-Walker anomaly in the proposita arouses the question whether Dandy-Walker anomaly is part of the DA IIB spectrum or whether the Aase-Smith syndrome belongs to the DA spectrum.