Autosomal dominant inheritance of Barber-Say syndrome.
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.
Dinulos
M B
MB
Division of Medical Genetics, Department of Pediatrics, University of Washington School of Medicine and Children's Hospital and Regional Medical Center, Seattle, Washington 98105-0371, USA. mdinulos@u.washington.edu
Pagon
R A
RA
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006628:Hirsutism / Q000151:congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009679:Nuclear Family; D010641:Phenotype; D012868:Skin Abnormalities / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics