Aegean Pathology Journal 3, 5–9, 2006 Available on line at www.epd.org.tr/apj.php © 2006 Aegean Pathology Society, APJ, 3, 5–9 Neu-Laxova syndrome: A terrible phenotypic appearance caused by an undefined genetic alteration Tülay Tos 1 , Gülden Diniz 2 , Serdar Ceylaner 3 , Safiye Aktaş 2 , Sebnem Altınyurt 4 , Gürcan Erbay 5 Departments of Genetics 1 , Gynecology/Obstetrics 4 , Radiology 5 , İzmir Dr. E. Hayri Üstündağ Maternity Hospital, İzmir, Turkey Department of Pathology 2 , İzmir Dr. Behçet Uz Children’s Hospital, İzmir, Turkey Department of Genetics 3 , Ankara Dr. Zekai Tahir Burak Maternity Hospital, Ankara, Turkey Accepted for publication on 14 April.2006 Neu-Laxova syndrome (NLS) is a rare, uniformly lethal congenital disease characterized by abnormalities of placentation, marked intrauterine growth retardation (IUGR), limb contractures, edema, ichthyosis, central nervous system (CNS) developmental defects and unique facial appearance. The degrees and presence of these findings are variable in reported cases. Therefore the differential diagnosis includes very different disorders.Data from the previously described cases in the literature suggest that this disorder is inherited in an autosomal recessive manner and represents heterogeneous genetic alterations. We herein present a stillborn female at 31 weeks of gestation to consanguineous parents who had one previous offspring affected with non-immune hydrops fetalis. She had typical facial features including severe proptosis with ectropion, micrognathia, flattened nose, gaping mouth and malformed ears. In addition limb deformities and skin lacerations resulting from severe skin restriction were determined. Absence of CNS malformations was the most different feature of reported case. In this report, we aimed to call attention that 6.25% of all reported NLS cases are Turkish and to date most reported cases were from the countries that have high rates of consanguineous marriage such as Turkey. We emphasized that consanguinity could increase the risk of inheriting of NSL for both the partners to share the same `silent' heterogenic alteration. Early diagnosis with genetic counseling and serial ultrasound examination at risk families is necessary because termination of pregnancy for this lethal condition can be offered. Keywords: Neu-Laxova syndrome, ichthyosis, skin restriction, terrible facial appearance, undefined genetic alteration. Background Neu-Laxova Syndrome (NLS) is a rare, fatal congenital disease that was firstly described by Neu et al. in 1971. 1 One year later, Laxova reported three similar siblings whose parents were first cousins. 2,3 Intrauterine growth retardation (IUGR), abnormal limbs and restrictive dermatopathy were common findings in all these cases. 1–4 The most conspicuous feature of this syndrome is the terrible face with prominence of the eyes (exophthalmos), absence of the eyelids, flattened nose and gaping mouth. 1–5 Until 2005, 64 cases of NLS have been reported in the medical literature. 2–4 Most authors pointed out the usefulness of ultrasonographic investigation in the prenatal diagnosis of this disorder. 1–7 The ultrasonography is especially suggested for monitoring of ‘at risk' pregnancies. 6,7 Although inheritance is