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Prenatal ultrasound diagnosis of a rare occurrence of lethal multiple pterygium syndrome in two siblings
Author(s) -
Meizner I.,
Hershkovitz R.,
Carmi R.,
Katz M.
Publication year - 1993
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1993.03060432.x
Subject(s) - medicine , prenatal diagnosis , hypoplasia , ultrasound , prenatal ultrasound , genetic counseling , ectromelia , obstetrics , obstetric ultrasound , prenatal screening , pregnancy , fetus , pediatrics , surgery , radiology , genetics , biology , virus , virology
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. Copyright © 1993 International Society of Ultrasound in Obstetrics and Gynecology