Neu-Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review
- 15 March 2004
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 125A (3), 240-249
- https://doi.org/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.Keywords
This publication has 35 references indexed in Scilit:
- Second trimester diagnosis of Neu Laxova syndromePrenatal Diagnosis, 2002
- IKKα−/− mice share phenotype with pupoid fetus (pf/pf) and repeated epilation (Er/Er) mutant miceTrends in Genetics, 2000
- New manifestations in an infant with Neu Laxova syndromeAmerican Journal of Medical Genetics, 1995
- Sonographic diagnosis of Neu‐Laxova syndromeJournal of Clinical Ultrasound, 1994
- Neu Laxova syndrome in two Egyptian familiesAmerican Journal of Medical Genetics, 1991
- New manifestations of Neu‐Laxova syndromeAmerican Journal of Medical Genetics, 1990
- Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasiaAmerican Journal of Medical Genetics, 1986
- The Neu‐Laxova syndromeAmerican Journal of Medical Genetics, 1985
- Elaboration of the phenotypic changes of the upper limbs in the Neu‐Laxova syndromeAmerican Journal of Medical Genetics, 1984
- Comments on Dr. Curry's classification of the Neu‐Laxova syndromeAmerican Journal of Medical Genetics, 1983