Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern.

Frontonasal dysplasia (FND, also called frontonasal dysostosis or median cleft face syndrome) includes a spectrum of abnormalities affecting the eyes, forehead and nose, and resulting from midfacial dysraphia. The clinical picture is highly variable, but major findings in FND include ocular hypertelorism, a broad nasal root, median cleft affecting nose or both the nose and upper lip, and widow's peak. It is usually a sporadic disorder, although a few familial cases have been reported. We report here a three-generation family with multiple affected members with frontonasal dysplasia. This observation suggests autosomal dominant inheritance. Furthermore, some of the features e.g. over-riding toes, nail changes, vertical crease on plantar region of the feet in the index patient were not reported up to now.
AuthorsH Koçak, G Ceylaner
JournalGenetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 20 Issue 1 Pg. 63-8 ( 2009) ISSN: 1015-8146 [Print] Switzerland
PMID19400543 (Publication Type: Case Reports, Journal Article)
  • Child, Preschool
  • Cleft Lip
  • Cleft Palate
  • Craniofacial Dysostosis (genetics, pathology)
  • Family Health
  • Female
  • Frontal Bone (abnormalities)
  • Humans
  • Hypertelorism
  • Nasal Bone (abnormalities)
  • Pedigree

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