title: A patient with features of both Bardet-Biedl and Alström syndromes.
abstract: We describe a 30-year-old patient with acanthosis nigricans, diabetes mellitus with insulin resistance, hypogonadotropic hypogonadism, pigmentary degeneration of the retina and cerebellar, pyramidal and posterior columnar involvement. He had normal mental function, normal hearing and no hexadactyly. The patient had symptoms of both Bardet-Biedl and Alström syndromes, but did not manifest all the main features of either syndrome. This suggests either that the Bardet-Biedl, Alström, Laurence-Moon syndromes (including the variant described by Edwards) have a highly variable expression or that our case is a new variant within this group of syndromes.
authors.affiliation: Department of Dermatology, Hôpital Cantonal Universitaire, Geneva, Switzerland.
authors.forename: C
authors.initials: C
authors.lastname: Hauser
authors.forename: C
authors.initials: C
authors.lastname: Rojas
authors.forename: A
authors.initials: A
authors.lastname: Roth
authors.forename: E
authors.initials: E
authors.lastname: Schmied
authors.forename: J H
authors.initials: JH
authors.lastname: Saurat
mesh_terms: D000052:Acanthosis Nigricans / Q000150:complications; D000328:Adult; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000150:complications*; D008297:Male; D013577:Syndrome