Prenatal sonographic diagnosis of Neu-Laxova syndrome

Citation
An. Durr-e-sabih,"khan et Z. Sabih, Prenatal sonographic diagnosis of Neu-Laxova syndrome, J CLIN ULTR, 29(9), 2001, pp. 531-534
Citations number
12
Categorie Soggetti
Radiology ,Nuclear Medicine & Imaging
Journal title
JOURNAL OF CLINICAL ULTRASOUND
ISSN journal
00912751 → ACNP
Volume
29
Issue
9
Year of publication
2001
Pages
531 - 534
Database
ISI
SICI code
0091-2751(200111/12)29:9<531:PSDONS>2.0.ZU;2-L
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 smal l 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 repre sent 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 condition s with similar sonographic features need to be considered in the differenti al diagnosis. (C) 2001 John Wiley & Sons, Inc.