Literature DB >> 16987270

Neu-Laxova syndrome: a case report and review of the literature.

M Ugras1, G Kocak, H Ozcan.   

Abstract

Neu-Laxova syndrome (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), microcephaly, abnormal brain development, oedema and ichthyosis. It was first reported in 1971 by Neu et al. (Pediatrics 47: 610-612) and since then no more than 60 cases have been reported. A newborn girl delivered from a 29-year-old healthy mother was admitted to hospital with a thick membrane covering her body and dismorphic appearance. The diagnosis of NLS was made according to characteristic features. The syndrome is known to have a poor prognosis and the baby lived for 9 weeks. This case is one of the longest living cases of NLS and the fourth case reported from Turkey.

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Year:  2006        PMID: 16987270     DOI: 10.1111/j.1468-3083.2006.01645.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN: 0926-9959            Impact factor:   6.166


  3 in total

1.  Prenatal diagnosis and postmortem findings of Neu-laxova syndrome.

Authors:  Ebru Tarim; Filiz Bolat
Journal:  J Turk Ger Gynecol Assoc       Date:  2010-12-01

Review 2.  Prenatal Diagnosis of Neu-Laxova Syndrome.

Authors:  Adriana Serrano Olave; Alba Padín López; María Martín Cruz; Susana Monís Rodríguez; Isidoro Narbona Arias; Jesús S Jiménez López
Journal:  Diagnostics (Basel)       Date:  2022-06-23

3.  A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

Authors:  Deren Ozcan; Murat Derbent; Deniz Seçkin; Yunus Emre Bikmaz; Muhteşem Ağildere; Annachiara De Sandre-Giovannoli; Nicolas Lévy; Berkan Gürakan
Journal:  Ann Dermatol       Date:  2013-11-30       Impact factor: 1.444

  3 in total

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