Popliteal pterygium syndrome

Int J Pediatr Otorhinolaryngol. 1988 Feb;15(1):17-22. doi: 10.1016/0165-5876(88)90046-8.


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 full expression. Appropriate genetic counseling can then be given to these families.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cleft Lip
  • Cleft Palate
  • Eyelids / abnormalities
  • Female
  • Humans
  • Infant, Newborn
  • Leg / abnormalities*
  • Nails, Malformed
  • Syndrome