Ocular findings in a family with Sotos syndrome (cerebral gigantism).
OBJECTIVE
We examined the ocular features in a two-generation family with Sotos syndrome (cerebral gigantism). Sotos syndrome is characterized by excessive growth in prenatal and early life, advanced bone age, and typical facial features.


CONCLUSIONS
One patient had presenile nuclear sclerotic cataracts, megalophthalmos, hypoorbitism, and exotropia. One of her daughters had megalocornea, exophoria, and iris hypoplasia. Her other daughter had megalocornea. The ophthalmologist can play an important role in the diagnosis and treatment of Sotos syndrome.
Koenekoop
R K
RK
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Eye Institute, Baltimore, MD 21287-9237, USA.
Rosenbaum
K N
KN
Traboulsi
E I
EI
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D005128:Eye Diseases / Q000175:diagnosis*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005877:Gigantism / Q000175:diagnosis*; D006801:Humans; D013577:Syndrome