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June 1987

Ocular Abnormalities Accompanying Chromosome 13 Defects

Arch Ophthalmol. 1987;105(6):744. doi:10.1001/archopht.1987.01060060022010

To the Editor.  —The case report by Weiss and Margo1 nicely documents bilateral microphthalmos with cyst associated with 13q deletion syndrome. However, their report failed to mention that such embryologic ocular defects are common when a portion of the long arm of chromosome 13 is deleted. In fact, such defects are a hallmark of the 13q and ring 13 syndromes.

Report of a Case.  —A 30-day-old female infant was seen in the neonatal intensive care unit for evaluation of bilateral microphthalmos in association with multiple congenital anomalies. She was delivered vaginally at 36 weeks' gestation and weighed 1370 g. A partial deletion of chromosome 13 was suspected based on the constellation of ocular abnormalities, microcephaly, broad nasal bridge, low-set ears, shield chest, absent thumbs and first metacarpals, bilateral syndactyly of the fourth and fifth toes, rectovaginal fistula, and a cardiac ventriculoseptal defect.The globes were small, with axial lengths

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