Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern.

Abstract

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.

• Authors: H Koçak, G Ceylaner
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 20 Issue 1 Pg. 63-8 ( 2009) ISSN: 1015-8146 [Print] Switzerland
• PMID: 19400543 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Cleft Lip
• Cleft Palate
• Craniofacial Dysostosis (genetics, pathology)
• Family Health
• Female
• Frontal Bone (abnormalities)
• Humans
• Hypertelorism
• Nasal Bone (abnormalities)
• Pedigree