Neu-Laxova Syndrome: Detailed Prenatal Diagnostic and Post-Mortem Findings and Literature Review

Melanie A. Manning, Christopher M. Cunniff, Christopher E. Colby, Yasser Y. El-Sayed, H. Eugene Hoyme

Research output: Contribution to journalArticle

36 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)240-249
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume125 A
Issue number3
StatePublished - Mar 15 2004

Keywords

  • Fetal edema
  • Intrauterine growth restriction
  • Neu-Laxova syndrome
  • Proptosis
  • Testrictive dermopathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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