Varlas Valentin Nicolae, Epistatu Dragos, Varlas Roxana Georgiana
Department of Obstetrics and Gynecology, Filantropia Clinical Hospital, 011132 Bucharest, Romania.
Faculty of Dentistry, "Carol Davila" University of Medicine and Pharmacy, 010221 Bucharest, Romania.
Diagnostics (Basel). 2024 Jul 10;14(14):1480. doi: 10.3390/diagnostics14141480.
Apert syndrome is an inherited condition with autosomal dominant transmission. It is also known as acrocephalosyndactyly type I, being characterized by a syndrome of craniosynostosis with abnormal head shape, facial anomalies (median hypoplasia), and limb deformities (syndactyly, rhizomelic shortening). The association can suspect the prenatal diagnosis of these types of anomalies. The methodology consisted of revising the literature, by searching the PubMed/Medline database in which 27 articles were selected and analyzed, comprising 32 cases regarding the prenatal diagnosis of Apert syndrome. A series of ultrasound parameters, the anatomopathological abnormalities found, the obstetric results, and the genetic tests were followed. The distribution of imaging results (US, MRI) identified in the analyzed cases was as follows: skull-shaped abnormalities were evident in 96.8% of cases, facial abnormalities (hypertelorism 43.7%, midface hypoplasia 25%, proptosis 21.8%), syndactyly in 87.5%, and cardiovascular abnormalities in 9.3%. The anomalies detected by the ultrasound examination of the fetus were confirmed postnatally by clinical or gross evaluation or imaging. The management of these cases requires an early diagnosis, an evaluation of the severity of the cases, and appropriate parental counseling.
阿佩尔综合征是一种常染色体显性遗传的遗传性疾病。它也被称为I型尖头并指畸形，其特征为颅缝早闭综合征，伴有头部形状异常、面部畸形（正中发育不全）和肢体畸形（并指、近端肢体缩短）。这种关联可怀疑对这类异常进行产前诊断。方法包括通过检索PubMed/Medline数据库来查阅文献，从中选择并分析了27篇文章，包括32例关于阿佩尔综合征产前诊断的病例。跟踪了一系列超声参数、发现的解剖病理学异常、产科结果和基因检测。分析病例中确定的影像学结果（超声、磁共振成像）分布如下：颅骨形状异常在96.8%的病例中明显，面部异常（眼距过宽43.7%、面中部发育不全25%、眼球突出21.8%），并指在87.5%的病例中出现，心血管异常在9.3%的病例中出现。胎儿超声检查发现的异常在出生后通过临床或大体评估或影像学得到证实。这些病例的管理需要早期诊断、对病例严重程度的评估以及适当的家长咨询。
