A new look at the management of the oculo-mandibulo-facial syndrome

Ophthalmic Paediatr Genet. 1992 Mar;13(1):19-26. doi: 10.3109/13816819209070049.

Abstract

The authors review the literature on the oculo-mandibulo-facial syndrome and present the case of a six-year-old boy with congenital cataracts, microphthalmos, nystagmus, failure to thrive, dysmorphic features with a tiny pinched nose, mandibular hypoplasia, microstomia, double chin, chronic snoring, recurrent respiratory infections and dental problems. Chronic obstructive sleep apnoea with decreased oxygen saturation was present. Optimal medical management of OMFS-patients is described.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / therapy
  • Child
  • Diagnosis, Differential
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / therapy*
  • Hallermann's Syndrome / diagnosis
  • Hallermann's Syndrome / therapy*
  • Humans
  • Male
  • Progeria / diagnosis