title: Neu-Laxova syndrome: a prenatal diagnosis.
abstract: Neu-Laxova syndrome is a rare autosomal recessive congenital disorder. Prenatal diagnosis is possible via second trimester ultrasonography. Characteristic ultrasound findings include hydramnios, severe intrauterine growth restriction, craniofacial and CNS anomalies, limb contractures, skin lymphedema, skin restrictions, and akinesia. Fewer than 70 cases have been reported, and no survival beyond six months of age is known with most neonatal deaths occurring within the first few days of life. Overall, this is a lethal condition after birth secondary to severe lung hypoplasia and brain anomalies. Herein we report a recent case from our institution with prenatal diagnosis.
authors.affiliation: Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson. 39216, USA.
authors.forename: Pushpinder
authors.initials: P
authors.lastname: Dhillon
authors.forename: James A
authors.initials: JA
authors.lastname: Bofill
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D001927:Brain Diseases / Q000000981:diagnostic imaging*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D006801:Humans; D007057:Ichthyosis / Q000000981:diagnostic imaging*; D017880:Limb Deformities, Congenital; D008831:Microcephaly / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal