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, intra-uterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypo-plastic 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.

Key Words:

• autosomal recessive inheritance
• congenital malformations
• ichthyosis
• intra-uterine growth retardation
• necropsy
• Neu-Laxova syndrome