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.

Optic atrophy

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.


合計: 2

                       


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PMID (PMCID)
19893668
(2771975)
 OTHER
Sotos syndrome: An interesting disorder with gigantism.
Nalini A, Biswas A.
Ann Indian Acad Neurol. 2008;11(3):190-2.
We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy.
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.
A 22-year-old man was diagnosed with Sotos syndrome with optic atrophy.