Name: PubCaseFinder
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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.

Cafe-au-lait spot

Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.

Total: 1

(per page)

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.