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Neu-Laxova Syndrome: Pathological Evaluation of a Fetus and Review of the Literature
Authors:Judy A. C. King   Veronice Gardner  Harold Chen  Will Blackburn
Affiliation: a Department of Pathology, University of South Alabama, Mobile, Alabamab Department of Medical Genetics, University of South Alabama, Mobile, Alabama
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.
Keywords:autosomal recessive inheritance  congenital malformations  ichthyosis  intra-uterine growth retardation  necropsy  Neu-Laxova syndrome
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