Article
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
European journal of medical genetics - 1 Jan 2000
Schaefer Elise, Durand Myriam, Stoetzel Corinne, Doray Bérénice, Viville Brigitte, Hellé Sophie, Danse Jean-Marc, Hamel Christian, Bitoun Pierre, Goldenberg Alice, Finck Sonia, Faivre Laurence, Sigaudy Sabine, Holder Muriel, Vincent Marie-Claire, Marion Vincent, Bonneau Dominique, Verloes Alain, Nisand Israël, Mandel Jean-Louis, Dollfus Hélène
Abstract excerpt
Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal...
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