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Photo Essay
June 2003

Bilateral Retinoblastoma, Microphthalmia, and Colobomas in the 13q Deletion Syndrome

Arch Ophthalmol. 2003;121(6):916-917. doi:10.1001/archopht.121.6.916

A MALE INFANT was born at 35 weeks' gestation with a chromosomal deletion from 13q14 to 13q32. Results of physical examination showed multiple cardiac anomalies including a ventriculoseptal defect, supravalvular aortic narrowing, and patent foramen ovale; growth deficiency; fifth-finger clinodactyly; overriding second toe bilaterally; umbilical and inguinal hernias; bilateral hydronephrosis; micropenis with undescended testes; low-set ears and a hearing deficit; micrognathia; and a high palate. Bilateral hip dislocation, simian creases, and a right accessory nipple were also noted. Magnetic resonance imaging of the brain detected a partial absence of the corpus callosum, agenesis of the septum pellucidum, asymmetric thalami, and holoprosencephaly.

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