Autosomal dominant inheritance of Barber-Say syndrome

We report on a mother-to-son transmission of the Barber-Say syndrome, a fin ding that strongly supports dominant inheritance of this rare disorder. The characteristic facial changes, small ears, hirsutism, and redundant skin o f 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 i nheritance. The parents of the patient reported by Santana et al, [1993: Am . J, Med. Genet. 47:20-23] were consanguineous, suggesting autosomal recess ive inheritance in other cases. Am. J. Med. Genet. 86:54-56, 1999. (C) 1999 Wiley-Liss, Inc.