TY - JOUR
T1 - Prenatal ultrasound diagnosis of a rare occurrence of lethal multiple pterygium syndrome in two siblings
AU - Meizner, I.
AU - Hershkovitz, R.
AU - Carmi, R.
AU - Katz, M.
PY - 1993/11/1
Y1 - 1993/11/1
N2 - We report two cases of prenatal ultrasound diagnosis of the lethal form of multiple pterygium syndrome in successive pregnancies in the same woman. This extremely rare entity is characterized by multiple pterygia, flexion contractures, facial anomalies and hypoplasia of heart and lungs. The appearance of the congenital cataract is unique and this finding was present in both abortuses. Prenatal detection of this syndrome is feasible, and an ultrasound survey should be offered during genetic counselling to previously affected couples.
AB - We report two cases of prenatal ultrasound diagnosis of the lethal form of multiple pterygium syndrome in successive pregnancies in the same woman. This extremely rare entity is characterized by multiple pterygia, flexion contractures, facial anomalies and hypoplasia of heart and lungs. The appearance of the congenital cataract is unique and this finding was present in both abortuses. Prenatal detection of this syndrome is feasible, and an ultrasound survey should be offered during genetic counselling to previously affected couples.
KW - multiple pterygium syndrome
KW - prenatal diagnosis
KW - ultrasound
UR - http://www.scopus.com/inward/record.url?scp=84989026711&partnerID=8YFLogxK
U2 - 10.1046/j.1469-0705.1993.03060432.x
DO - 10.1046/j.1469-0705.1993.03060432.x
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 12797247
AN - SCOPUS:84989026711
VL - 3
SP - 432
EP - 436
JO - Ultrasound in Obstetrics and Gynecology
JF - Ultrasound in Obstetrics and Gynecology
SN - 0960-7692
IS - 6
ER -