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A patient with features of both Bardet-Biedl and Alström syndromes
Authors:C. Hauser  C. Rojas  A. Roth  E. Schmied  J. -H. Saurat
Affiliation:(1) Department of Dermatology, Hôpital Cantonal Universitaire, CH-1211 Geneva 4, Switzerland;(2) Department of Medicine, Hôpital Cantonal Universitaire, CH-1211 Geneva 4, Switzerland;(3) Department of Ophthalmology, Hôpital Cantonal Universitaire, CH-1211 Geneva 4, Switzerland
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 posteri-or 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.
Keywords:Alströ  m syndrome  Bardet-Biedl syndrome  Laurence-Moon syndrome
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