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
Service de Génétique Médicale: centre de référence anomalies du développement Grand-Est et centre de référence affections génétiques ophtalmologiques (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Eur J Med Genet. 2011 Mar-Apr;54(2):157-60. doi: 10.1016/j.ejmg.2010.10.004. Epub 2010 Oct 29.
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 dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.
产前或幼儿期诊断出的阴道积水和多指畸形可能会引发诊断难题，尤其是在区分麦库西克 - 考夫曼综合征（MKKS）和巴德 - 比德尔综合征（BBS）时。这两种病症最初可能会有重叠。随着时间推移，BBS在儿童期出现的其他特征，如色素性视网膜炎、肥胖、学习障碍和进行性肾功能不全，使得BBS和MKKS能够明确区分。基因型也存在重叠，因为在这两种综合征中都发现了MKKS - BBS6基因的突变。我们报告了7例在新生儿期被诊断为阴道积水和多指畸形且携带各种BBS基因（BBS6、BBS2、BBS10、BBS8和BBS12）突变的患者，强调了对具有这种临床关联的患者进行广泛BBS基因分型对于诊断、预后和遗传咨询的重要性。
