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宾德氏综合征的产前超声诊断:七例病例系列及文献综述

Prenatal Ultrasound Diagnosis of Binder Phenotype: Case Series of Seven Patients and Literature Review.

作者信息

Andrietti Silvia, Maccarrone Alessia, Gullo Giuseppe, Billone Valentina, De Paola Lina, Gaggero Chiara, Beleva Diliana, Calcagno Chiara, De Biasio Pierangela

机构信息

Prenatal Diagnosis and Perinatal Medicine Unit, IRCCS Ospedale Policlinico San Martino, 16132 Genova, Italy.

Department of Neurology, Rehabilitation, Ophtalmology, Genetics, Maternal and Infant Health (DiNOGMI), 16132 Genoa, Italy.

出版信息

Reports (MDPI). 2025 Sep 22;8(3):188. doi: 10.3390/reports8030188.

Abstract

: Binder syndrome or maxillonasal dysplasia is a rare developmental disorder affecting the anterior maxilla and nasal complex, characterized by midfacial hypoplasia, a flattened nasal bridge, and increased nasofrontal angle. We present a case series of seven fetuses diagnosed with Binder phenotype through targeted ultrasound examination at our prenatal diagnosis center during the SARS-CoV-2 pandemic, between September 2021 and July 2023, including the first case described in the literature before 14 weeks. The median gestational age at diagnosis was 21 weeks. Ultrasound features included flattened fetal facial profile, increased nasofrontal angle (>143°), verticalized nasal bones and widened maxillary alveolar arch. Five cases presented as isolated anomalies, while two showed associated findings including growth restriction and polyhydramnios. Invasive prenatal diagnosis was offered in all cases, with three patients consenting to amniocentesis, all revealing normal karyotype and chromosomal microarray. Pregnancy outcomes varied: three patients opted for termination of pregnancy, one case resulted in intrauterine fetal demise, one delivered prematurely with confirmed postnatal phenotype, and two continued pregnancy with normal delivery. : This relatively high case frequency within a short timeframe suggests that Binder syndrome, while rare, may not be as uncommon as previously reported. Accurate ultrasound diagnosis combined with comprehensive genetic counseling enables appropriate pregnancy management and optimal perinatal outcomes.

摘要

宾德综合征或上颌鼻发育异常是一种罕见的发育障碍,影响上颌前部和鼻复合体,其特征为面中部发育不全、鼻梁扁平以及鼻额角增大。我们报告了一系列7例胎儿的病例,这些胎儿在2021年9月至2023年7月新冠疫情期间于我们的产前诊断中心通过针对性超声检查被诊断为宾德表型,其中包括文献中描述的14周前的首例病例。诊断时的中位孕周为21周。超声特征包括胎儿面部轮廓扁平、鼻额角增大(>143°)、鼻骨垂直化以及上颌牙槽弓增宽。5例表现为孤立性异常,而2例显示有相关发现,包括生长受限和羊水过多。所有病例均提供了侵入性产前诊断,3例患者同意进行羊膜穿刺术,结果均显示核型和染色体微阵列正常。妊娠结局各异:3例患者选择终止妊娠,1例导致宫内胎儿死亡,1例早产且产后表型确诊,2例继续妊娠并正常分娩。在短时间内出现相对较高的病例频率表明,宾德综合征虽然罕见,但可能并不像先前报道的那么少见。准确的超声诊断结合全面的遗传咨询能够实现适当的妊娠管理并获得最佳围产期结局。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d715/12473893/3e4cb77f04a6/reports-08-00188-g001.jpg

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