Serrano Olave Adriana, López Alba Padín, Cruz María Martín, Rodríguez Susana Monís, Narbona Arias Isidoro, López Jesús S Jiménez
Obstetrics and Gynecology, Materno-Infantil Hospital Regional Universitary Málaga, Avenue Arroyo de los Ángeles S/N, 29011 Málaga, Spain.
Department of Surgical Specialties, University of Malaga, 29010 Málaga, Spain.
Diagnostics (Basel). 2022 Jun 23;12(7):1535. doi: 10.3390/diagnostics12071535.
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 , 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.
纽-拉索瓦综合征是一种罕见的致死性常染色体隐性遗传疾病，涉及多个系统的异常。它于1971年首次被报道。从那时起，仅报告了88例病例。该综合征的特征是早期严重生长受限以及颅面畸形，如小头畸形、眼距过宽和其他畸形，从而导致相当典型的特征。此外，还可能表现为全身性水肿、肢体屈曲挛缩和其他畸形、中枢神经系统（CNS）异常、皮肤（严重鱼鳞病）以及泌尿生殖系统和心脏异常。我们报告了一例患者，她首次怀孕，在孕中期超声检查时，其胎儿在我们中心被诊断为患有纽-拉索瓦综合征。超声检查结果提示了诊断，羊水基因研究证实了这一诊断：该变体与纽-拉索瓦综合征2型纯合相关。此外，还有第二次怀孕，胎儿为该突变的杂合子。此外，我们还对目前已发表的关于这种疾病的文献进行了综述。
