Unit of Obstetrics and Gynecology, Department of Surgery, Dentistry, Pediatrics, and Gynecology, AOUI Verona, University of Verona, Verona Italy.
Department of Obstetrics and Gynecology, Carlo Poma Hospital, Azienda Socio-Sanitaria Territoriale di Mantova, Mantua, Italy.
J Gynecol Obstet Hum Reprod. 2024 Dec;53(10):102836. doi: 10.1016/j.jogoh.2024.102836. Epub 2024 Aug 22.
Binder phenotype (BP) is a term used to define a form of maxillo-nasal dysplasia defined by the presence of flattened nose, verticalized nasal bones, and retrusion of the maxilla (BP triad). This facial anomaly can be associated with other anomalies in both genetic and acquired conditions as well as in isolation. This systematic review aimed to summarize the antenatal findings, maternal and obstetrics characteristics as well as the obstetrics and neonatal outcomes of all cases of BP diagnosed in utero.
According to the PRISMA statement, we conducted a systematic review of the literatures to identify all the Binder phenotype cases diagnosed antenatally. We extracted and summarized obstetrics and neonatal characteristics of each study, including our case report.
We identified a total of 47 cases of BP. The median gestational age at diagnosis was 23 weeks. BP was associated with other skeletal or non-skeletal anomalies in all cases apart from six confirmed to be isolated. Respiratory distress syndrome was observed in 12 neonates and in 18 cases BP was one of the clinical findings of chondrodysplasia punctata X-linked.
BP is often associated with other fetal defects; however, when isolated, BP seems to have good obstetrics and neonatal outcomes. In fetuses with apparent isolated BP at midtrimester, genetic testing with fluorescence in situ hybridization (FISH) for ARSE deletion can be offered for CDPX1 diagnosis while exome sequencing may be more informative in cases where a syndromic condition is suspected. Lastly, BP per se is associated with a higher risk of respiratory distress syndrome and feeding difficulties.
Binder 表型（BP）是一个用来定义一种颌面发育不良的术语，其特征为扁平的鼻子、垂直化的鼻骨和上颌后缩（BP 三联征）。这种面型异常可能与遗传和获得性疾病中的其他异常以及孤立性疾病有关。本系统综述旨在总结所有产前诊断为 BP 的病例的产前发现、母婴和产科特征以及产科和新生儿结局。
根据 PRISMA 声明，我们对文献进行了系统综述，以确定所有产前诊断为 BP 的病例。我们提取并总结了每个研究的产科和新生儿特征，包括我们的病例报告。
我们共确定了 47 例 BP 病例。中位诊断孕周为 23 周。除了 6 例被证实为孤立性病例外，所有病例均与其他骨骼或非骨骼异常相关。12 例新生儿出现呼吸窘迫综合征，18 例 BP 是 X 连锁软骨发育不全 punctata 的临床表现之一。
BP 常与其他胎儿缺陷相关；然而，当孤立存在时，BP 的产科和新生儿结局似乎较好。在中孕期表现为明显孤立性 BP 的胎儿中，可以进行 ARSE 缺失的荧光原位杂交（FISH）基因检测以诊断 CDPX1，而当怀疑综合征时，外显子组测序可能更具信息量。最后，BP 本身与呼吸窘迫综合征和喂养困难的风险增加有关。
