Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Obesity

Accumulation of substantial excess body fat.


合計: 3

                       


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PMID (PMCID)
10982971
 MALE Infant
Cole-Hughes macrocephaly syndrome and associated autistic manifestations.
Naqvi S, Cole T, Graham JM Jr.
Am J Med Genet. 2000;94(2):149-52.
Based on cases that had been excluded from a previous clinical study of Sotos syndrome, Cole and Hughes [1991: Am J Med Genet 41:115-124] reported a new syndrome associated with marked obesity, occasional delayed bone age, distinctive facial anomalies, mental retardation, and progressive postnatal macrocephaly in the context of autosomal dominant familial macrocephaly.
7410107
 FEMALE Child
Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration.
Ferrier PE, de Meuron G, Korol S, Hauser H.
Helv Paediatr Acta. 1980;35(1):97-102.
A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism.
7410107
 FEMALE Child
Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration.
Ferrier PE, de Meuron G, Korol S, Hauser H.
Helv Paediatr Acta. 1980;35(1):97-102.
A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism.