Melanie Manning

Publication Details

  • Neu-Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review AMERICAN JOURNAL OF MEDICAL GENETICS PART A Manning, M. A., Cunniff, C. M., Colby, C. E., El-Sayed, Y. Y., Hoyme, H. E. 2004; 125A (3): 240-249

    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.

    View details for DOI 10.1002/ajmg.a.20467

    View details for Web of Science ID 000189316800004

    View details for PubMedID 14994231

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