The Weaver syndrome in a girl.
This paper reports the first female case of the Weaver syndrome. The prominent clinical features are gigantism, macrocephaly, and the characteristic facial dysmorphism. Hypertonia and bone maturation acceleration are somewhat less pronounced than in the formerly published cases of male patients. The etiology of the syndrome remains unclear, but if genetic, X-linked recessive inheritance can be excluded.
D001846:Bone Development; D005145:Face / Q000002:abnormalities; D005260:Female; D005877:Gigantism / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D013577:Syndrome