Prenatal diagnosis and postmortem findings of neu-laxova syndrome

Abstract

Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth. Here we present a fetus having a dysmorphic face with proptotic eyes, retracted eye lids, depressed nasal bridge and micrognathia at 25 weeks of gestation. The extremities were contracted and no fetal movements were observed during the ultrasonographic examination. The fetus also had microcephaly and the amniotic fluid was increased. The pregnancy was terminated and the abnormalities demonstrated on prenatal ultrasound were confirmed at autopsy.