A new form of mandibulofacial dysostosis with macroblepharon and macrostomia

Clin Dysmorphol. 1997 Jan;6(1):21-4.


We report on a girl aged 7 years with normal mental development but an unusual form of mandibulofacial dysostosis. The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking macrostomia, retrognathism with reduced height of the mandible, and irregularly placed teeth, some to them missing.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Eyelids / abnormalities*
  • Facies
  • Female
  • Humans
  • Macrostomia / complications*
  • Mandibulofacial Dysostosis / complications
  • Mandibulofacial Dysostosis / pathology*