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.