Abstract

<h3>To the Editor.</h3> —The case report by Weiss and Margo<sup>1</sup>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. <h3>Report of a Case.</h3> —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

Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.