Prenatal ultrasound diagnosis of a rare occurrence of lethal multiple pterygium syndrome in two siblings

I. Meizner, R. Hershkovitz, R. Carmi, M. Katz

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)432-436
Number of pages5
JournalUltrasound in Obstetrics and Gynecology
Volume3
Issue number6
DOIs
StatePublished - 1 Nov 1993
Externally publishedYes

Keywords

  • multiple pterygium syndrome
  • prenatal diagnosis
  • ultrasound

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