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A Japanese male infant with the Weaver syndrome
1Department of Human Ecology and Genetics, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
Insights
Weaver syndrome, a genetic disorder causing overgrowth, was observed in a Japanese infant. This case suggests the genetic mutation is consistent across ethnicities, supporting autosomal dominant inheritance with variable expression.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Weaver syndrome is a rare genetic disorder characterized by distinctive facial features, postnatal overgrowth, and accelerated skeletal maturation.
- Previous reports have described cases with slight variations in clinical manifestations.
- The genetic basis and inheritance patterns require further elucidation across diverse populations.
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.