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.

Hamartoma

A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.


合計: 2

                       


（表示件数）
PMID (PMCID)
30332768
(6213993)
 MIXED_SAMPLE Child
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.
Mencarelli A, Prontera P, Mencarelli A, Rogaia D, Stangoni G, Cecconi M, Esposito S.
Int J Mol Sci. 2018;19(10):.
The present study reports a case of a 4-year-old boy with specific clinical features of Sotos syndrome and a particular complex skin hamartoma on the right femoral side, in addition to other minor findings, such as a "cafe-au-lait" spot on the right hemithorax and syndactyly of the second and third right toes.
30332768
(6213993)
 MIXED_SAMPLE Child
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.
Mencarelli A, Prontera P, Mencarelli A, Rogaia D, Stangoni G, Cecconi M, Esposito S.
Int J Mol Sci. 2018;19(10):.
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.