RT Journal Article
T1 Prenatal Diagnosis of Neu-Laxova Syndrome.
A1 Serrano Olave, Adriana
A1 López, Alba Padín
A1 Cruz, María Martín
A1 Rodríguez, Susana Monís
A1 Narbona Arias, Isidoro
A1 López, Jesús S Jiménez
K1 Neu–Laxova syndrome
K1 amniotic fluid
K1 facial dysmorphism
K1 fetal edema
K1 genetic study
K1 intrauterine growth restriction
K1 proptosis
K1 restrictive dermopathy
K1 ultrasound findings
AB 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 PSAT1 gene, 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.
SN 2075-4418
YR 2022
FD 2022-06-23
LK http://hdl.handle.net/10668/20965
UL http://hdl.handle.net/10668/20965
LA en
DS RISalud
RD Apr 5, 2025