Journal of American Association for Pediatric Ophthalmology and Strabismus
Short ReportsPatient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age☆
Section snippets
Case report
The patient, a 12-year-old white male, was a product of a term gestation and born by a normal spontaneous vaginal delivery. The parents were nonconsanguineous and were of Italian and Irish origin. He was the second of 3 children. At birth, he weighed 3.64 kg, and by 1 year of age, he weighed more than 13.64 kg (despite careful dietary control), placing him above the 95th percentile for weight. At 15 months of age, the parents noted that the child's eyes were moving back and forth. Neurologic
Discussion
This patient has a mild form of Bardet-Beidl syndrome. This diagnosis is supported by the following clinical signs: obesity, mild retardation, renal abnormalities, mild syndactyly of the hands, hypogonadism, and severe retinitis pigmentosa.3 Also, this patient has hypertension. Hypertension is seen in 60% of patients with Bardet-Beidl syndrome. Obesity can be present from early infancy. Postaxial polydactyly, although considered a major criteria, is seen in only 58% of patients with this
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Reprint requests: Maria A. Musarella, MD, FRCS(C), Long Island College Hospital Department of Ophthalmology, Brooklyn, NY 11201 (e-mail: [email protected]).