翻訳と辞書 Words near each other ・ Congenital disorder of glycosylation ・ Congenital disorder of glycosylation type IIc ・ Congenital disorders of amino acid metabolism ・ Congenital distal spinal muscular atrophy ・ Congenital dyserythropoietic anemia ・ Congenital dyserythropoietic anemia type I ・ Congenital dyserythropoietic anemia type II ・ Congenital dyserythropoietic anemia type III ・ Congenital dyserythropoietic anemia type IV ・ Congenital epulis ・ Congenital erosive and vesicular dermatosis ・ Congenital estrogen deficiency ・ Congenital fiber type disproportion ・ Congenital fibrosis of the extraocular muscles ・ Congenital fourth nerve palsy ・ Congenital generalized lipodystrophy ・ Congenital hearing loss ・ Congenital heart defect ・ Congenital Heart Surgeons' Society ・ Congenital hemolytic anemia ・ Congenital hepatic fibrosis ・ Congenital hereditary endothelial dystrophy ・ Congenital hyperinsulinism ・ Congenital hypertrophy of the lateral fold of the hallux ・ Congenital hypoplastic anemia ・ Congenital hypothyroidism ・ Congenital ichthyosiform erythroderma ・ Congenital insensitivity to pain ・ Congenital insensitivity to pain with anhidrosis ・ Congenital lacrimal duct obstruction Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Congenital generalized lipodystrophy ： ウィキペディア英語版 Congenital generalized lipodystrophy Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is an extremely rare autosomal recessive skin condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people worldwide. ==Presentation== Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder which manifests with insulin resistance, absence of subcutaneous fat and muscular hypertrophy. The condition appears in early childhood with accelerated linear growth, quick aging of bones, and a large appetite. As the child grows up, acanthosis nigricans (hyperpigmentation and thickening of skin) will begin to present itself throughout the body - mainly in the neck, trunk, and groin.〔 The disorder also has characteristic features like hepatomegaly or an enlarged liver which arises from fatty liver and may lead to cirrhosis, muscle hypertrophy, lack of adipose tissue, splenomegaly, hirsutism (excessive hairiness) and hypertriglyceridemia. Common cardiovascular problems related to this syndrome are cardiac hypertrophy and arterial hypertension (high blood pressure). This disorder can also cause metabolic syndrome. Most with the disorder also have a prominent umbilicus or umbilical hernia. Commonly, patients will also have acromegaly with enlargement of the hands, feet, and jaw. After puberty, additional symptoms can develop. In women, clitoromegaly and polycystic ovary syndrome can develop. This impairs fertility for women, and only a few documented cases of successful pregnancies in women with CGL exist. However, the fertility of men with the disorder is unaffected.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Congenital generalized lipodystrophy」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.