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Prenatal sonographic diagnosis of Neu‐Laxova syndrome
Author(s) -
Khan Ali N.,
Sabih Zahida
Publication year - 2001
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.10019
Subject(s) - medicine , polyhydramnios , prenatal diagnosis , differential diagnosis , microcephaly , abdomen , anatomy , fetus , radiology , pregnancy , pathology , pediatrics , genetics , biology
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.