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.

Retinal atrophy

Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.


合計: 3

                       


（表示件数）
PMID (PMCID)
11124319
 MALE Adult
Optic disk pallor and retinal atrophy in Sotos syndrome (cerebral gigantism).
Inoue K, Kato S, Numaga J, Sakurai M, Ohara C, Ouchi M, Iwata T, Kawashima H.
Am J Ophthalmol. 2000;130(6):853-4.
Sotos syndrome may be associated with optic disk pallor and retinal atrophy.
11124319
 MALE Adult
Optic disk pallor and retinal atrophy in Sotos syndrome (cerebral gigantism).
Inoue K, Kato S, Numaga J, Sakurai M, Ohara C, Ouchi M, Iwata T, Kawashima H.
Am J Ophthalmol. 2000;130(6):853-4.
To report a case of Sotos syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy.
11124319
 MALE Adult
Optic disk pallor and retinal atrophy in Sotos syndrome (cerebral gigantism).
Inoue K, Kato S, Numaga J, Sakurai M, Ohara C, Ouchi M, Iwata T, Kawashima H.
Am J Ophthalmol. 2000;130(6):853-4.
To report a case of Sotos syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy.