Summary
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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Kondo, I., Mori, Y. & Kuwajima, K. A Japanese male infant with the weaver syndrome. Jap J Human Genet 35, 257–262 (1990). https://doi.org/10.1007/BF01876855
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DOI: https://doi.org/10.1007/BF01876855