Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB.
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.
Pallotta
R
R
Regional 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
Ehresmann
T
T
Fusilli
P
P
D000293:Adolescent; D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics*; D002552:Cerebral Ventricles / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000235:genetics*; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007596:Joints / Q000002:abnormalities* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male