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

31 Citations (Scopus)

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

Fingerprint

Exophthalmos
Micrognathism
Ectropion
Hypertelorism
Nervous System Malformations
Ichthyosis
Fetal Movement
Microcephaly
Growth
Nose
Ear
Autopsy
Edema
Fetus
Neck
Extremities
Central Nervous System
Phenotype
Lung
Skin

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Neu-Laxova Syndrome : Detailed Prenatal Diagnostic and Post-Mortem Findings and Literature Review. / Manning, Melanie A.; Cunniff, Christopher M; Colby, Christopher E.; El-Sayed, Yasser Y.; Hoyme, H. Eugene.

In: American Journal of Medical Genetics, Vol. 125 A, No. 3, 15.03.2004, p. 240-249.

Research output: Contribution to journalArticle

Manning, Melanie A. ; Cunniff, Christopher M ; Colby, Christopher E. ; El-Sayed, Yasser Y. ; Hoyme, H. Eugene. / Neu-Laxova Syndrome : Detailed Prenatal Diagnostic and Post-Mortem Findings and Literature Review. In: American Journal of Medical Genetics. 2004 ; Vol. 125 A, No. 3. pp. 240-249.
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