Twins and their mildly affected mother with Weaver syndrome

Dumić M, Vuković J, Cvitković M, Medica I. Twins and their mildly affected mother with Weaver syndrome. Clin Genet 1993: 44: 338–340. © Munksgaard, 1993

A pair of twins, a brother and sister, with the complete form of Weaver syndrome (overgrowth, macrocephaly, facial, skeletal, nail and feet anomalies) and their mildly affected mother are reported, suggesting autosomal dominant inheritance. They all have plantar and palmar hyper-hydrosis and twins also have nail dysplasia, symptoms which have not yet been described in this syndrome.