Popliteal pterygium syndrome

Ronald W. Deskin, Sawyer Drew G.

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium syndrome. The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity. The pediatric otolaryngologist should be alert to this syndrome and will be consulted for airway and feeding problems as well as speech and hearing management. Because of the wide variability of expression of popliteal pterygium syndrome, careful physical evaluation of available family members should be made in sporadic cases to confirm the diagnosis in those presenting with minor manifestations and to discover less severely affected relatives of those with full expression. Appropriate genetic counseling can then be given to these families.

Original languageEnglish (US)
Pages (from-to)17-22
Number of pages6
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume15
Issue number1
DOIs
Publication statusPublished - 1988

    Fingerprint

Keywords

  • Popliteal pterygiura syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine
  • Surgery

Cite this