A Japanese male infant with the Weaver syndrome |
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Authors: | I Kondo Y Mori K Kuwajima |
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Affiliation: | Department of Human Ecology and Genetics, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan. |
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Abstract: | A 15-month-old male infant who had pre- and postnatal overgrowth, accelerated bone maturation and characteristic facial appearance was described. Although a Japanese female with Weaver syndrome previously reported had slightly different clinical manifestations from others, our patient had typical clinical features of Weaver syndrome. We suggest that a genetic mutation of the syndrome may be the same in Japanese as other ethnic groups and that Weaver syndrome may be an autosomal dominant disorder with variable expressions. |
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