Berardinelli-Seip congenital lipodystrophy in two siblings
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منابع مشابه
A Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy
Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
متن کاملGenotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be...
متن کاملPhenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype ...
متن کاملTwo unusual features in a child with Berardinelli-Seip congenital generalised lipodystrophy.
Berardinelli-Seip congenital generalised lipodystrophy (BSCGL) is an extremely rare autosomal recessive disorder characterised by congenital absence of functional adipocytes causing lipoatrophy, dyslipidemia and fat maldistribution [1]. Fat deposited in liver, heart and muscle result in stetosis-induced cirrhosis, cardiac failure, insulin resistance and diabetes mellitus. We report two addition...
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Lia Beatriz de Azevedo Souza Karbage, Ana Paula Dias Rangel Montenegro, Luciana Felipe Férrer Aragão, Izabella Tamira Galdino Farias Vasconcelos, Virgínia Oliveira Fernandes, Annelise Barreto de Carvalho, Clarisse Mourão Melo Ponte, Catarina Brasil D'Alva, Carla Soraya Costa Maia, Synara Cavalcante Lopes, Marivaldo Loyola Aragão, Carla Antoniana Ferreira de Almeida Vieira, Ana Paula Germano Lop...
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ژورنال
عنوان ژورنال: Indian Dermatology Online Journal
سال: 2014
ISSN: 2229-5178
DOI: 10.4103/2229-5178.144511