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Original Article

Neu-Laxova Syndrome: Pathological Evaluation of a Fetus and Review of the Literature

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Pages 57-79 | Received 05 May 1994, Accepted 04 Aug 1994, Published online: 09 Jul 2009
 

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.

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