Sotos syndrome (cerebral gigantism): analysis of 8 cases.
Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present. We report 8 patients with this syndrome and relate their clinical features, neuroimaging and echocardiographic findings.
Melo
Débora Gusmão
DG
Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Riberão Preto, SP, Brazil.
Acosta
Angelina Xavier
AX
Salles
Maria Aparecida de Almeida
MA
Pina-Neto
João Monteiro de
JM
Castro
José Daniel Vieira de
JD
Santos
Antonio Carlos
AC
D000015:Abnormalities, Multiple / Q000209:etiology / Q000503:physiopathology; D000293:Adolescent; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000209:etiology* / Q000503:physiopathology; D005260:Female; D005877:Gigantism / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome