Björnstad syndrome in a patient with mental retardation.
Björnstad syndrome in a patient with mental retardation: Pili torti or twisted hair can appear as an isolated defect, in association with other ectodermal defects, in association with other clinical features or can be acquired. Björnstad syndrome is a rare condition with apparent autosomal recessive inheritance, characterized by hearing loss and twisted hairs (pili torti). All patients with Björnstad syndrome reported thusfar have normal intelligence. We report on a patient with severe mental retardation and review the literature.
Center for Human Genetics, University Hospital Leuven, Belgium.
G
G
Van Buggenhout
J
J
Trommelen
B
B
Hamel
J P
JP
Fryns
D006197:Hair / Q000473:pathology*; D006201:Hair Diseases / Q000150:complications* / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D013577:Syndrome