Autosomal dominant inheritance of Barber-Say syndrome

• Published in: American journal of medical genetics 1999-09, Vol.86 (1), p.54-56
• Main Authors: Dinulos, Mary Beth, Pagon, Roberta A.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Adult; autosomal dominant; Barber-Say syndrome; Biological and medical sciences; Complex syndromes; Ear - abnormalities; ectropion; Face - abnormalities; Female; Genes, Dominant; Genetic Linkage; hirsutism; Hirsutism - congenital; Hirsutism - genetics; Humans; Infant, Newborn; Male; Medical genetics; Medical sciences; Nuclear Family; Phenotype; Skin Abnormalities - genetics; Syndrome; X Chromosome - genetics
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19990903)86:1<54::AID-AJMG10>3.0.CO;2-2

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. [1993: Am. J. Med. Genet. 47:20–23] were consanguineous, suggesting autosomal recessive inheritance in other cases. Am. J. Med. Genet. 86:54–56, 1999. © 1999 Wiley‐Liss, Inc.