Prenatal Diagnosis of Neu–Laxova Syndrome
Neu–Laxova 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...
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MDPI AG
2022-06-01
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| Series: | Diagnostics |
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| author | Adriana Serrano Olave Alba Padín López María Martín Cruz Susana Monís Rodríguez Isidoro Narbona Arias Jesús S. Jiménez López |
| author_facet | Adriana Serrano Olave Alba Padín López María Martín Cruz Susana Monís Rodríguez Isidoro Narbona Arias Jesús S. Jiménez López |
| author_sort | Adriana Serrano Olave |
| collection | DOAJ |
| description | Neu–Laxova 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–Laxova 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 <i>PSAT1 gene</i>, associated with NLS (Neu–Laxova 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. |
| first_indexed | 2024-03-09T12:02:06Z |
| format | Article |
| id | doaj.art-d3aedad40e7042ef9f21aea8d64c31be |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T12:02:06Z |
| publishDate | 2022-06-01 |
| publisher | MDPI AG |
| record_format | Article |
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| spelling | doaj.art-d3aedad40e7042ef9f21aea8d64c31be2023-11-30T23:02:33ZengMDPI AGDiagnostics2075-44182022-06-01127153510.3390/diagnostics12071535Prenatal Diagnosis of Neu–Laxova SyndromeAdriana Serrano Olave0Alba Padín López1María Martín Cruz2Susana Monís Rodríguez3Isidoro Narbona Arias4Jesús S. Jiménez López5Obstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary Málaga, Avenue Arroyo de los Ángeles S/N, 29011 Málaga, SpainObstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary Málaga, Avenue Arroyo de los Ángeles S/N, 29011 Málaga, SpainObstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary Málaga, Avenue Arroyo de los Ángeles S/N, 29011 Málaga, SpainObstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary Málaga, Avenue Arroyo de los Ángeles S/N, 29011 Málaga, SpainObstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary Málaga, Avenue Arroyo de los Ángeles S/N, 29011 Málaga, SpainObstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary Málaga, Avenue Arroyo de los Ángeles S/N, 29011 Málaga, SpainNeu–Laxova 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–Laxova 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 <i>PSAT1 gene</i>, associated with NLS (Neu–Laxova 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.https://www.mdpi.com/2075-4418/12/7/1535Neu–Laxova syndromeultrasound findingsfetal edemaproptosisintrauterine growth restrictionrestrictive dermopathy |
| spellingShingle | Adriana Serrano Olave Alba Padín López María Martín Cruz Susana Monís Rodríguez Isidoro Narbona Arias Jesús S. Jiménez López Prenatal Diagnosis of Neu–Laxova Syndrome Diagnostics Neu–Laxova syndrome ultrasound findings fetal edema proptosis intrauterine growth restriction restrictive dermopathy |
| title | Prenatal Diagnosis of Neu–Laxova Syndrome |
| title_full | Prenatal Diagnosis of Neu–Laxova Syndrome |
| title_fullStr | Prenatal Diagnosis of Neu–Laxova Syndrome |
| title_full_unstemmed | Prenatal Diagnosis of Neu–Laxova Syndrome |
| title_short | Prenatal Diagnosis of Neu–Laxova Syndrome |
| title_sort | prenatal diagnosis of neu laxova syndrome |
| topic | Neu–Laxova syndrome ultrasound findings fetal edema proptosis intrauterine growth restriction restrictive dermopathy |
| url | https://www.mdpi.com/2075-4418/12/7/1535 |
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