Excessive growth in a girl with Weaver syndrome

A 24 month-old female with Weaver syndrome who has the most severe overgrowth among reported cases is presented. Prenatal history was remarkable for maternal hydantoin use throughout pregnancy. In addition to all major features of the syndrome, she displayed some novel features, including patent ductus arteriosus, atrial septal defect and diffuse thinning of the corpus callosum. Initially, carpal bone age was more advanced compared to phalangeal bone age, as expected in Weaver syndrome. However, phalangeal bone age caught up with carpal bone age during the follow-up period, suggesting that dysharmonic bone age advancement is an early feature of Weaver syndrome. The apparent male predominance in Weaver syndrome is generally ascribed to milder expression of the syndrome in females. The present patient, showing the most severe expression of the syndrome, refutes the notion that females with Weaver syndrome may have a milder form of the syndrome.