Ocular Findings in a Family With Sotos Syndrome (Cerebral Gigantism)

• Published in: American journal of ophthalmology Vol. 119; no. 5; pp. 657 - 658
• Main Authors: Koenekoop, Robert K., Rosenbaum, Kenneth N., Traboulsi, Elias I.
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01-05-1995; Elsevier
• Subjects: Abnormalities, Multiple - diagnosis; Adolescent; Adult; Biological and medical sciences; Brain - abnormalities; Eye Diseases - diagnosis; Facial Bones - abnormalities; Female; Gigantism - diagnosis; Humans; Malformations of the nervous system; Medical sciences; Neurology; Syndrome; Human; Nervous system diseases; Family study; Exploration; Congenital disease; Cerebral disorder; Eye; Visual system; Eye disease; Cerebral gigantism; Malformation; Central nervous system disease; Diagnosis
• ISSN: 0002-9394; 1879-1891
• DOI: 10.1016/S0002-9394(14)70232-6

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.
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.