Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
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概要
- 論文の詳細を見る
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.
- 日本小児内分泌学会の論文
著者
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Nakajima Shigeo
箕面市立病院 小児科
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Nakajima Shigeo
Department Of Pediatrics Osaka University Graduate School Of Medicine
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OZONO Keiichi
Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine
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Matsumoto Naomichi
Department of Human Genetics, Yokohama City University Graduate School of Medicine
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Matsuda-hashii Yoshiko
大阪大学 医学系研究科小児発達医学
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Ozono Keiichi
Osaka University Graduate School Of Medicine
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MIYOSHI YOKO
Department of Pediatrics, Osaka University Graduate School of Medicine
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MUSHIAKE SOTARO
Department of Pediatrics, Osaka University Graduate School of Medicine
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Nakajima Shigeo
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
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Nakajima Shigeo
Research Laboratory The Nisshin Oillio Ltd.
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TANIIKE Masako
Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine
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MOHRI Ikuko
Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine
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Matsumoto Naomichi
Department Of Human Genetics Nagasaki University School Of Medicine
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Matsuda Yoshiko
Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine
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Shimizu Nobuhiko
Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine.
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Mohri Ikuko
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
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Taniike Masako
Department Of Developmental Medicine (pediatrics) Osaka University Graduate School Of Medicine
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Nakajima Shigeo
Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine.
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Sako Masahiro
Department Of Pediatrics Osaka University Graduate School Of Medicine
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Matsuda-hashii Yoshiko
Department Of Pediatrics Osaka University Graduate School Of Medicine
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Miyoshi Yoko
Department Of Applied Biochemistry Faculty Of Applied Biological Science Hiroshima University
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Mushiake Sotaro
Department Of Pediatrics D-5 Developmental Medicine Osaka University Graduate School Of Medical Scie
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Sakai Norio
Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine.
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Matsumoto Naomichi
Department Of Cardiology Fukuoka University Hospital School Of Medicine
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Sakai Norio
大阪大学 医学系研究科小児科
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Ozono Keiichi
Department Of Developmental Medicine (pediatrics) D-5 Osaka University Graduate School Of Medicine
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Taniike Masako
Department of Child Development, United Graduate School of Child Development, Osaka University
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Mohri Ikuko
Department of Child Development, United Graduate School of Child Development, Osaka University
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