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.

Prominent forehead

Forward prominence of the entire forehead, due to protrusion of the frontal bone.


合計: 2

                       


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PMID (PMCID)
25118028
 MIXED_SAMPLE Infant
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH.
Eur J Hum Genet. 2015;23(5):610-5.
There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin.
26043501
 MIXED_SAMPLE Child
Neuroimaging and clinical characterization of Sotos syndrome.
Turkmen S, ahin S, Kocer N, Peters H, Mundlos S, Tuysuz B.
Genet Couns. 2015;26(1):1-12.
All the patients had a characteristic facial gestalt of Sotos syndrome consisting of triangular face with prominent forehead, frontoparietal sparseness of hair and small nose.