The facio-genito-popliteal syndrome

V. Escobar, D. D. Weaver

Research output: Contribution to journalArticle

7 Scopus citations


The finding of cleft lip and/or palate, congenital sinuses of the lower lip, popliteal pterygium, and genital anomalies in any combination is recognized as the popliteal pterygium syndrome or facio-genito-popliteal syndrome. Since Trelat's description of the condition in 1869, approximately 45 cases have appeared in the literature. Most cases have been sporadic, although a few families in which several individuals were affected have been reported. A thorough pedigree analysis has never been performed; nevertheless, the mode of inheritance of the syndrome is commonly thought of as autosomal dominant, although recessive inheritance and even multifactorial inheritance have been proposed. In this paper we describe two additional patients with popliteal pterygium syndrome, review the available published cases, demonstrate the large intra- and interfamilial variation seen in this syndrome, and present data supporting an autosomal dominant mode of inheritance.

Original languageEnglish (US)
Pages (from-to)185-192
Number of pages8
JournalBirth Defects: Original Article Series
Issue number6 B
StatePublished - Dec 1 1978

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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