✦ LIBER ✦

Frontonasal dysostosis in two successive generations

✍ Scribed by Nevin, Norman C.; Leonard, Alan G.; Jones, Barry

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 21 KB
Volume: 87
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991126)87:3<251::aid-ajmg10>3.0.co;2-g

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✦ Synopsis

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.

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