Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature

Abstract

Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypoplastic or atelectatic lungs, limb deformities, edema, polyhydramnios, and short umbilical cord. Abnormal facial features include sloping forehead, hypertelorism, severe ectropion, proptosis, malformed ears, flat nose, and micrognathia. A necropsy study of a male infant with Neu-Laxova syndrome is described. Cleft palate and ambiguous external genitalia were present in addition to anomalies characteristic of Neu-Laxova syndrome. The clinical manifestations are compared with those of the 40 previously reported cases.