title: Frontonasal dysostosis in two successive generations.
abstract: 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.
authors.affiliation: Regional Genetics Service, Belfast City Hospital Trust, Belfast, Northern Ireland. nc.nevin@bch.n-i.nhs.uk
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
authors.forename: A G
authors.initials: AG
authors.lastname: Leonard
authors.forename: B
authors.initials: B
authors.lastname: Jones
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001932:Brain Neoplasms / Q000235:genetics; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D003337:Corpus Callosum / Q000473:pathology; D004413:Dysostoses / Q000235:genetics* / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D008067:Lipoma / Q000235:genetics; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*