A patient with features of both Bardet-Biedl and Alström syndromes |
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Authors: | C. Hauser C. Rojas A. Roth E. Schmied J. -H. Saurat |
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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 |
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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. |
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Keywords: | Alströ m syndrome Bardet-Biedl syndrome Laurence-Moon syndrome |
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