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Prenatal sonographic diagnosis of Neu-Laxova syndrome

✍ Scribed by Durr-e-Sabih; Ali N. Khan; Zahida Sabih

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 450 KB
Volume: 29
Category: Article
ISSN: 0091-2751
DOI: 10.1002/jcu.10019

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✦ Synopsis

Abstract

We report the sonographic diagnosis of Neu‐Laxova syndrome in a fetus at 27 weeks' menstrual age. The parents were first cousins. Sonography revealed microcephaly, a sloping forehead, exophthalmos, a small thorax and abdomen, hypoplastic lungs, syndactyly, hyperextended knees, polyhydramnios, a small placenta, and intrauterine growth restriction. The long bones were normal. The calvaria was hyperechoic and associated with shadowing, obscuring any intracranial abnormalities. This sonographic finding was presumed to represent calvarial calcification, not previously described with this syndrome. We believe that Neu‐Laxova syndrome can be reliably diagnosed prenatally by demonstrating the sonographic features described, although other conditions with similar sonographic features need to be considered in the differential diagnosis. © 2001 John Wiley & Sons, Inc. J Clin Ultrasound 29:531–534, 2001.

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