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.

Aniridia

Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.


合計: 1

                       


（表示件数）
PMID (PMCID)
1320183
 MALE Infant
[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].
Berio A, Trucchi R, Meliota M.
Minerva Pediatr. 1992;44(5):223-9.
"Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].