Frontonasal dysostosis in two successive generations

Am J Med Genet. 1999 Nov 26;87(3):251-3. doi: 10.1002/(sici)1096-8628(19991126)87:3<251::aid-ajmg10>;2-g.


Frontonasal dysostosis (also called frontonasal "dysplasia") comprises ocular hypertelorism, median facial cleft affecting nose and/or upper lip, unilateral or bilateral cleft of the alae nasi, anterior cranium bifidum occultum, or a widow's peak. Usually it is a sporadic disorder, although a few familial cases have been reported. We describe a 2-year-old girl with anterior cranium bifidum occultum, lipoma of genu and anterior part of the corpus callosum, and hypertelorism. Her mother had a history of a nasal drip at birth caused by a defect in the cribriform plate and phenotypically, a widow's peak. This observation suggests either autosomal dominant or X-linked dominant inheritance. The family illustrates the importance of identifying mild expression of frontonasal dysostosis before genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Brain Neoplasms / genetics
  • Child, Preschool
  • Cleft Lip / genetics*
  • Corpus Callosum / pathology
  • Dysostoses / genetics*
  • Dysostoses / pathology
  • Facial Bones / abnormalities*
  • Female
  • Frontal Bone / abnormalities
  • Hair / abnormalities*
  • Humans
  • Hypertelorism / genetics*
  • Lipoma / genetics
  • Phenotype
  • Skull / abnormalities*