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Rei Sakata, MD; Tomohiko Usui, MD; Masakazu Mimaki, MD; Makoto Araie, MD

Arch Ophthalmol. 2008;126(3):431-432.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

We recently encountered a case of developmental glaucoma with systemic malformations including polydactyly, retained testis, hydronephrosis, and epilepsy. The patient showed partial monosomy 9p23-pter and partial trisomy 13q31-qter, and this chromosomal translocation has not been reported in the literature to our knowledge.

Report of a Case

The patient, born by cesarean delivery at 38 weeks' gestation and weighing 3760 g, was the first child (male) of healthy parents. Bilateral polydactyly was observed at birth (Figure, A). At 2 months of age, he was admitted to another hospital and developmental glaucoma was suspected based on findings of enlarged corneal diameter, ocular hypertension, and bilateral abnormal optic discs. At age 4 months, he was affected by an incomplete type of the mucocutaneous lymph node syndrome (Kawasaki disease), and myoclonic epilepsy appeared in the same period. Hydronephrosis in the right kidney and bilateral . . . [Full Text of this Article]

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