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.

Postnatal macrocephaly

The postnatal development of an abnormally large skull (macrocephaly).


合計: 3

                       


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PMID (PMCID)
21998857
 FEMALE
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kuinskien ZA, Hettinger JA, Sismani C, Patsalis PC, Kuinskas V.
Am J Med Genet A. 2011;155A(10):2501-7.
We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and resembling that of Sotos syndrome, rather than the recently reported syndrome of reciprocal duplication.
21998857
 FEMALE
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kuinskien ZA, Hettinger JA, Sismani C, Patsalis PC, Kuinskas V.
Am J Med Genet A. 2011;155A(10):2501-7.
We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and resembling that of Sotos syndrome, rather than the recently reported syndrome of reciprocal duplication.
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.