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Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome


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タイトル: Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
著者: Miyoshi, Yoko / Taniike, Masako / Mohri, Ikuko / Mushiake, Sotaro / Nakajima, Shigeo / Matsumoto, Naomichi / Ozono, Keiichi
発行日: 2004年 6月
出版者: 日本小児内分泌学会
引用: Clinical pediatric endocrinology. 2004, 13(1), p.17-23
抄録: We report a case of Japanese girl with a rare disorder of Weaver syndrome, which was characterized by overgrowth with advanced and disharmonic bone age, craniofacial abnormalities, developmental delay, metaphyseal flaring of the long bones and camptodactyly. The patient was delivered at 38 weeks of gestation with a length of 54.2 cm (+ 2.6 SD), a weight of 3805 g (+ 2.5 SD) and an occipitofrontal circumference (OFC) of 35.0 cm (+ 1.1 SD). She manifested hypertonia and flexion contractures in the first few years. She also had submucosal soft cleft palate and difficulty in swallowing and breathing in early infancy. When she was 5 years and 7 months old, her height and weight were 133.3 cm (+ 5.5 SD) and 32.0 kg (+ 5.1 SD), respectively. We could not detect any endocrinological abnormalities for the cause of overgrowth. According to clinical features, Weaver syndrome was suspected and genetical analysis was performed. Fluorescence in situ hybridization (FISH) and direct sequencing analysis showed neither deletion nor point mutation of the nuclear receptor SET-domain-containing protein 1 (NSD1) gene on 5q35, which is responsible for Sotos syndrome. Therefore, we made a diagnosis of Weaver syndrome for this patient and discussed the differential diagnosis in terms of overgrowth syndrome.
キーワード: Weaver syndrome / overgrowth / advanced bone age / Sotos syndrome / NSD1 gene
URI: http://hdl.handle.net/10069/18793
ISSN: 09185739
関連リンク : http://ci.nii.ac.jp/naid/110002984499/
権利: 日本小児内分泌学会 / 本文データは学協会の許諾に基づきCiNiiから複製したものである
資料タイプ: Journal Article
原稿種類: publisher
出現コレクション:030 学術雑誌論文

引用URI : http://hdl.handle.net/10069/18793

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