First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: Case report and review of the literature

Siobhan M. Dolan, Alan L. Shanske, Robert W. Marion, Susan J. Gross

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies. Although described as lethal, review of the literature reveals three individuals who survived into childhood with this condition. We describe a fourth surviving patient and what we believe to be the first prenatal diagnosis of BPS in the first trimester.

Original languageEnglish (US)
Pages (from-to)138-142
Number of pages5
JournalPrenatal Diagnosis
Volume23
Issue number2
DOIs
StatePublished - Feb 1 2003

Keywords

  • First trimester diagnosis
  • Popliteal pterygium syndrome
  • Transvaginal ultrasound

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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