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Autosomal dominant inheritance of Barber-Say syndrome

✍ Scribed by Dinulos, Mary Beth; Pagon, Roberta A.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 22 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990903)86:1<54::aid-ajmg10>3.0.co;2-2

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✦ Synopsis

We report on a mother-to-son transmission of the Barber-Say syndrome, a finding that strongly supports dominant inheritance of this rare disorder. The characteristic facial changes, small ears, hirsutism, and redundant skin of our patients are consistent with the findings of five reported cases. The mother also had cleft palate and mild conductive hearing loss. Her son had a shawl scrotum, primary hypospadias, and mild hearing loss by report. The inheritance of this rare disorder has not been established. The parent-to-child transmission in this family suggests X-linked or autosomal dominant inheritance. The parents of the patient reported by Santana et al.

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