TY - JOUR
T1 - MULTIPLE PTERYGIUM SYNDROME WITH BODY ASYMMETRY
AU - WILLEMS, PJ
AU - COLPAERT, C
AU - VAERENBERGH, M
AU - VANTHIENEN, MN
AU - PARIZEL, PM
AU - VANMARCK, E
AU - SCHUERWEGH, WH
AU - MARTIN, JJ
PY - 1993/8/1
Y1 - 1993/8/1
N2 - 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. (C) 1993 Wiley-Liss, Inc.
AB - 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. (C) 1993 Wiley-Liss, Inc.
KW - ANAL ATRESIA
KW - ARTHROGRYPOSIS, CAMPTODACTYLY
KW - ESCOBAR SYNDROME
KW - HYPOSPADIAS
KW - LIMB REDUCTION
KW - AKINESIA DEFORMATION SEQUENCE
KW - CYSTIC HYGROMA
KW - WALL COMPLEX
KW - ANOMALIES
KW - LIMB
KW - FORM
U2 - 10.1002/ajmg.1320470122
DO - 10.1002/ajmg.1320470122
M3 - Comment/debate
SN - 0148-7299
VL - 47
SP - 106
EP - 111
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -