Twins and their mildly affected mother with Weaver syndrome.
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 hyperhydrosis and twins also have nail dysplasia, symptoms which have not yet been described in this syndrome.
Dumić
M
M
Department of Pediatrics, University Hospital Rebro, Zagreb, Croatia.
Vuković
J
J
Cvitkovic
M
M
Medica
I
I
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D017523:Croatia; D004200:Diseases in Twins / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D006945:Hyperhidrosis / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed; D012886:Skull / Q000002:abnormalities; D013577:Syndrome