Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review

Am J Med Genet A. 2004 Mar 15;125A(3):240-9. doi: 10.1002/ajmg.a.20467.

Abstract

Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting from severe skin restriction and decreased fetal movement. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system (CNS) anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. We present two new patients with NLS with striking prenatal diagnostic findings and detailed post-mortem examinations and review the previously described cases in the literature. Data from these patients suggest that the NLS represents a heterogeneous phenotype. Prenatal ultrasound findings of marked ocular proptosis in a growth restricted, edematous fetus should prompt consideration of a diagnosis of the NLS.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Adolescent
  • Adult
  • Craniofacial Abnormalities / diagnostic imaging*
  • Exophthalmos / diagnosis
  • Fatal Outcome
  • Female
  • Fetal Growth Retardation / diagnostic imaging*
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital / diagnostic imaging*
  • Male
  • Nervous System Malformations / diagnostic imaging*
  • Phenotype
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal*