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


Ugras M., Kocak G., Ozcan H.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, cilt.20, ss.1126-1128, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 20 Konu: 9
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1111/j.1468-3083.2006.01645.x
  • Dergi Adı: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
  • Sayfa Sayıları: ss.1126-1128

Özet

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.