Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

Eur J Pediatr. 2014 Dec;173(12):1741-4. doi: 10.1007/s00431-014-2453-9. Epub 2014 Nov 12.

Abstract

We describe an infant with popliteal pterygia, syngnathia, cleft lip and palate, and retrognathia diagnosed with popliteal pterygium syndrome (PPS). The neonatal course was complicated by severe obstructive apnea necessitating tracheostomy.

Conclusion: This report illustrates the potential for airway compromise in PPS patients and the need for thorough neonatal airway assessment.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Abnormalities, Multiple*
  • Apnea / diagnosis
  • Apnea / etiology*
  • Cleft Lip / complications*
  • Cleft Lip / diagnosis
  • Cleft Palate / complications*
  • Cleft Palate / diagnosis
  • Eye Abnormalities / complications*
  • Eye Abnormalities / diagnosis
  • Female
  • Fingers / abnormalities*
  • Humans
  • Infant, Newborn
  • Knee Joint / abnormalities*
  • Lower Extremity Deformities, Congenital / complications*
  • Lower Extremity Deformities, Congenital / diagnosis
  • Magnetic Resonance Imaging
  • Male
  • Mandible / abnormalities*
  • Maxilla / abnormalities*
  • Mouth Abnormalities / complications*
  • Mouth Abnormalities / diagnosis
  • Pregnancy
  • Prenatal Diagnosis
  • Syndactyly / complications*
  • Syndactyly / diagnosis
  • Urogenital Abnormalities / complications*
  • Urogenital Abnormalities / diagnosis

Supplementary concepts

  • Popliteal Pterygium Syndrome