{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:22:58Z","timestamp":1792005778127,"version":"4.4.0"},"reference-count":23,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T00:00:00Z","timestamp":1655942400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Neu\u2013Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations, resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexion contractures and other malformations of the extremities, abnormalities in the CNS (central nervous system), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case of a patient who had her first pregnancy with a fetus with Neu\u2013Laxova syndrome diagnosed in our center during the second-trimester ultrasound. The ultrasound findings suggested the diagnosis, which was confirmed with a genetic study of the amniotic fluid: the variant of the PSAT1 gene, associated with NLS (Neu\u2013Laxova syndrome) 2 in homozygosis. Moreover, there was a second pregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried out a review of published literature about this disease up to the present time.<\/jats:p>","DOI":"10.3390\/diagnostics12071535","type":"journal-article","created":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T21:25:00Z","timestamp":1656019500000},"page":"1535","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal Diagnosis of Neu\u2013Laxova Syndrome"],"prefix":"10.3390","volume":"12","author":[{"given":"Adriana","family":"Serrano Olave","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary M\u00e1laga, Avenue Arroyo de los \u00c1ngeles S\/N, 29011 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alba Pad\u00edn","family":"L\u00f3pez","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary M\u00e1laga, Avenue Arroyo de los \u00c1ngeles S\/N, 29011 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Mart\u00edn","family":"Cruz","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary M\u00e1laga, Avenue Arroyo de los \u00c1ngeles S\/N, 29011 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana Mon\u00eds","family":"Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary M\u00e1laga, Avenue Arroyo de los \u00c1ngeles S\/N, 29011 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9148-9881","authenticated-orcid":false,"given":"Isidoro","family":"Narbona Arias","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary M\u00e1laga, Avenue Arroyo de los \u00c1ngeles S\/N, 29011 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7286-8656","authenticated-orcid":false,"given":"Jes\u00fas S. Jim\u00e9nez","family":"L\u00f3pez","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary M\u00e1laga, Avenue Arroyo de los \u00c1ngeles S\/N, 29011 M\u00e1laga, Spain"},{"name":"Department of Surgical Specialties, University of Malaga, 29010 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1542\/peds.47.3.610","article-title":"A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings","volume":"47","author":"Neu","year":"1971","journal-title":"Pediatrics"},{"key":"ref_2","first-page":"139","article-title":"A further example of a lethal autosomal recessive condition in sibs","volume":"16","author":"Laxova","year":"1972","journal-title":"J. Ment. Defic. Res."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Aslan, H., Gul, A., Polat, I., Mutaf, C., Agar, M., and Ceylan, Y. (2002). Prenatal diagnosis of Neu-Laxova syndrome: A case report. BMC Pregnancy Childbirth, 2.","DOI":"10.1186\/1471-2393-2-1"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.annpat.2016.04.004","article-title":"Syndrome de Neu-Laxova: Rapport de trois cas et revue de la litt\u00e9rature","volume":"36","author":"Darouich","year":"2016","journal-title":"Ann. Pathol."},{"key":"ref_5","unstructured":"Regional Maternal-Child University Hospital of Malaga (2022, May 09). Report of the Molecular Genetics Unit, National Molecular Genetics Database, Madrid, February 2021. Available online: http:\/\/www.hospitalregionaldemalaga.es\/InforCorporativa\/UnidadesdeGesti%C3%B3nCl%C3%ADnica\/UGCdeLaboratorio\/CarteradeServicios.aspx."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1080\/01443615.2017.1343811","article-title":"Prenatal genetic diagnosis of Neu-Laxova syndrome","volume":"38","author":"Wood","year":"2018","journal-title":"J. Obstet. Gynaecol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.ajhg.2014.07.012","article-title":"Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway","volume":"95","author":"Schanze","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_8","first-page":"813","article-title":"Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis","volume":"179","author":"Bourque","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"149","DOI":"10.4103\/IJPM.IJPM_351_17","article-title":"Neu Laxova syndrome","volume":"62","author":"Dwivedi","year":"2019","journal-title":"Indian J. Pathol. Microbiol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1007\/s00404-007-0349-x","article-title":"Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: A case report","volume":"276","author":"Kahyaoglu","year":"2007","journal-title":"Arch. Gynecol. Obstet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/pd.228","article-title":"Early second trimester prenatal diagnosis of Neu-Laxova syndrome","volume":"22","author":"Driggers","year":"2002","journal-title":"Prenat. Diagn."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"483","DOI":"10.5021\/ad.2013.25.4.483","article-title":"A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: A mild form of Neu-laxova syndrome or a new entity?","volume":"25","author":"Ozcan","year":"2013","journal-title":"Ann. Dermatol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3193","DOI":"10.1002\/ajmg.a.33737","article-title":"Neu-Laxova syndrome: A new patient with detailed antenatal and post-natal findings","volume":"152","author":"Manar","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1111\/j.1468-3083.2006.01645.x","article-title":"Neu-Laxova syndrome: A case report and review of the literature","volume":"20","author":"Ugras","year":"2006","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320030304","article-title":"Brief clinical observations: The NeuLaxova syndrome-a distinct entity","volume":"3","author":"Lazjuk","year":"1979","journal-title":"Am. J. Med. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1002\/ajmg.1320160424","article-title":"Neu-Laxova syndrome: Two further case reports and comments on proposed subclassification","volume":"16","author":"Mueller","year":"1983","journal-title":"Am. J. Med. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1046\/j.1525-1470.2003.03005.x","article-title":"Neu-Laxova syndrome: A case report","volume":"20","author":"Hickey","year":"2003","journal-title":"Pediatr. Dermatol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/ajmg.1320280104","article-title":"Karimi-Nejad, R. NeuLaxova syndrome: Report of a case and comments","volume":"28","author":"Khajavi","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/ajmg.1320410109","article-title":"Neu-Laxova syndrome in two Egyptian families","volume":"41","author":"Meguid","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/ajmg.1320560225","article-title":"New manifestations in an infant with Neu Laxova syndrome","volume":"56","author":"Rouzbahani","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.1320200102","article-title":"Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome","volume":"20","author":"Shved","year":"1985","journal-title":"Am. J. Med. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s10545-013-9592-4","article-title":"An update on serine deficiency disorders","volume":"36","author":"Brilstra","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_23","first-page":"259","article-title":"Neu-Laxova Syndrome: An Unusual Association with Kyphosis","volume":"34","author":"Kaur","year":"2018","journal-title":"Turk. Patoloji. Derg."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/7\/1535\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:38:55Z","timestamp":1760139535000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/7\/1535"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,23]]},"references-count":23,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,7]]}},"alternative-id":["diagnostics12071535"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics12071535","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,23]]}}}