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Genet Couns. 1998;9(3):201-4.

Björnstad syndrome in a patient with mental retardation.

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Center for Human Genetics, University Hospital Leuven, Belgium.


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.

[Indexed for MEDLINE]

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