title: [Neu-Laxova syndrome: Three case reports and a review of the literature].
abstract: BACKGROUND
  The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth retardation, abnormal facial features, ichthyotic skin lesions and severe central nervous system malformations, especially microlissencephaly. Others characteristic features associated with fetal hypokinesia sequence, including arthrogryposis, subcutaneous edema and pulmonary hypoplasia, are frequently reported in NLS.
  
  
  METHODS
  The clinicopathological characteristics of NLS are described in three cases with striking prenatal diagnostic findings and detailed post-mortem examinations. A review of the literature is undertaken with a focus on molecular basis.
  
  
  RESULTS
  We present three new patients with NLS: one stillbirth male and two female newborns, delivered at 29, 35 and 40 weeks of gestational age, respectively. Characteristic ultrasound findings included hydramnios, severe intra-uterine growth restriction, craniofacial and cental nervous system anomalies. The cytogenetic study, performed in one case, was normal. The post-mortem examination revealed characteristic abnormalities in all three cases, that allowed to make a prompt diagnosis of the NLS. Data from these patients suggest that the NLS represents a heterogeneous phenotype. This feature has been highlighted in the literature.
  
  
  CONCLUSIONS
  The SNL is a lethal developmental disorder characterized by phenotypic heterogeneity with striking neurological defects. It is underpinned by genetic heterogeneity. It can be caused by mutations in all three genes involved in de novo L-serine biosynthesis: PHGDH, PSAT1 and PSPH. Hence, the NLS constitutes the most severe end of already known human disease, i.e. serine-deficiency disorder.
authors.affiliation: Unité de fœtopathologie, hôpital universitaire Habib-Bougatfa, 7000 Bizerte, Tunisie. Electronic address: sihem.darouich@free.fr.
authors.forename: Sihem
authors.initials: S
authors.lastname: Darouich
authors.affiliation: Service d'anatomie et de cytologie pathologiques, institut Salah-Azaiez, 1007 Tunis, Tunisie.
authors.forename: Nadia
authors.initials: N
authors.lastname: Boujelbene
authors.affiliation: Service de gynéco-obstétrique C, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Kehila
authors.affiliation: Service de gynéco-obstétrique C, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.
authors.forename: Mohamed Badis
authors.initials: MB
authors.lastname: Chanoufi
authors.affiliation: Service de gynéco-obstétrique B, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.
authors.forename: Hédi
authors.initials: H
authors.lastname: Reziga
authors.affiliation: Service d'embryo-fœtopathologie, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.
authors.forename: Soumeya
authors.initials: S
authors.lastname: Gaigi
authors.affiliation: Service d'embryo-fœtopathologie, centre de maternité et de néonatologie, 1007 Tunis, Tunisie.
authors.forename: Aida
authors.initials: A
authors.lastname: Masmoudi
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D000025:Abortion, Eugenic; D000328:Adult; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D005804:Genes, Lethal; D005808:Genes, Recessive; D005865:Gestational Age; D006801:Humans; D007057:Ichthyosis / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D011247:Pregnancy; D050497:Stillbirth; D016216:Ultrasonography, Prenatal
keywords: Diagnostic prénatal; Fœtopathologie; Fœtopathology; Interruption médicale de la grossesse; Neu-Laxova syndrome; Pregnancy abortion; Prenatal diagnosis; Serine; Syndrome de Neu-Laxova; Sérine