Multiple pterygium syndrome with body asymmetry.
We report on a fetus with multiple pterygia in the popliteal, antecubital, intercrural, axillary, and nuchal region, arthrogryposis, camptodactyly, anal atresia, hypospadias, ambiguous genitalia, and neonatal death. Arthrogryposis was much more pronounced at the left than at the right side. Moreover, there was gross body asymmetry with hypoplasia of the left arm, leg, pelvis, and kidney. As this spectrum of anomalies does not fit any of the known multiple pterygium syndromes, this patient adds another clinical entity to the already wide spectrum of multiple pterygium syndromes.
Willems
P J
PJ
Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.
Colpaert
C
C
Vaerenbergh
M
M
Van Thienen
M N
MN
Parizel
P M
PM
Van Marck
E
E
Schuerwegh
W H
WH
Martin
J J
JJ
D000015:Abnormalities, Multiple; D001006:Anus, Imperforate; D003286:Contracture / Q000151:congenital; D005313:Fetal Death; D005532:Foot Deformities, Congenital; D005837:Genitalia, Male / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D009139:Musculoskeletal Abnormalities; D011625:Pterygium / Q000151:congenital*; D013577:Syndrome