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Neu–Laxova syndrome: Detailed prenatal diagnostic and post‐mortem findings and literature review
Author(s) -
Manning Melanie A.,
Cunniff Christopher M.,
Colby Christopher E.,
ElSayed Yasser Y.,
Hoyme H. Eugene
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20467
Subject(s) - microcephaly , hypertelorism , medicine , pathology , exophthalmos , intrauterine growth restriction , hypoplasia , fetus , anatomy , prenatal diagnosis , pregnancy , pediatrics , radiology , biology , genetics
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. © 2003 Wiley‐Liss, Inc.