RT Journal Article
T1 Prenatal Diagnosis of Neu–Laxova Syndrome
A1 Serrano-Olave, Adriana
A1 Padín-López, Alba
A1 Martín-Cruz, María
A1 Monís-Rodríguez, Susana
A1 Narbona-Arias, Isidoro
A1 Jiménez-López, Jesús Salvador
K1 Feto - Enfermedades
AB Neu–Laxova syndrome is a rare and lethal genetic disease with autosomal recessiveinheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, justeighty-eight cases have been reported. The syndrome is characterized by early and severe growthrestriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations,resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexioncontractures and other malformations of the extremities, abnormalities in the CNS (central nervoussystem), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case ofa patient who had her first pregnancy with a fetus with Neu–Laxova syndrome diagnosed in ourcenter 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 secondpregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried outa review of published literature about this disease up to the present time.
PB MDPI
SN 2075-4418
YR 2022
FD 2022-06-23
LK https://hdl.handle.net/10630/44767
UL https://hdl.handle.net/10630/44767
LA eng
NO Serrano Olave A, López AP, Cruz MM, Rodríguez SM, Narbona Arias I, López JSJ. Prenatal Diagnosis of Neu–Laxova Syndrome. Diagnostics. 2022; 12(7):1535. https://doi.org/10.3390/diagnostics12071535
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 27 feb 2026