{"title":"宾德表型--产前诊断、管理和产后结果:一个病例系列的启示和最新文献综述","authors":"Brinda Sabu, Dhanya Shenoy, V. R","doi":"10.1055/s-0044-1786170","DOIUrl":null,"url":null,"abstract":"Binder phenotype (BP) or maxillonasal dysplasia is a developmental disorder of the anterior part of the maxilla and nasal complex and is characterized by a short nose with a flat nasal bridge, short columella, acute nasolabial angle, perialar flatness, convex upper lip, and tendency to a class III malocclusion. The etiology of BP is heterogeneous with diverse features and outcomes. The ultrasound features of BP are midfacial hypoplasia with verticalized nasal bones, short columella with flattened tip and alar wings, and the nasofrontal angle measuring >140 degrees. In this case series, we present seven cases of BP detected antenatally, their varied etiology, management, and outcomes with a 2-year follow-up. We conclude that the diagnosis of facial dysmorphisms, such as BP, brings a lot of apprehension and agony in the parents amounting to multiple tests and counseling sessions. Physiognomy which is the normal familial appearance should be considered before concluding whether the observed feature is normal or pathological. Accurate diagnosis, adequate testing, and personalized counseling will help in the prevention of needless termination of pregnancies and ensure an optimal perinatal outcome.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1000,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Binder Phenotype—Prenatal Diagnosis, Management, and Postnatal Outcome: Insights from a Case Series and Updated Review of the Literature\",\"authors\":\"Brinda Sabu, Dhanya Shenoy, V. R\",\"doi\":\"10.1055/s-0044-1786170\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Binder phenotype (BP) or maxillonasal dysplasia is a developmental disorder of the anterior part of the maxilla and nasal complex and is characterized by a short nose with a flat nasal bridge, short columella, acute nasolabial angle, perialar flatness, convex upper lip, and tendency to a class III malocclusion. The etiology of BP is heterogeneous with diverse features and outcomes. The ultrasound features of BP are midfacial hypoplasia with verticalized nasal bones, short columella with flattened tip and alar wings, and the nasofrontal angle measuring >140 degrees. In this case series, we present seven cases of BP detected antenatally, their varied etiology, management, and outcomes with a 2-year follow-up. We conclude that the diagnosis of facial dysmorphisms, such as BP, brings a lot of apprehension and agony in the parents amounting to multiple tests and counseling sessions. Physiognomy which is the normal familial appearance should be considered before concluding whether the observed feature is normal or pathological. Accurate diagnosis, adequate testing, and personalized counseling will help in the prevention of needless termination of pregnancies and ensure an optimal perinatal outcome.\",\"PeriodicalId\":42412,\"journal\":{\"name\":\"Journal of Fetal Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.1000,\"publicationDate\":\"2024-04-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Fetal Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0044-1786170\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Fetal Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0044-1786170","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
宾德表型(Binder phenotype,BP)或上颌骨发育不良(maxillonasal dysplasia)是一种上颌骨前部和鼻复合体的发育障碍,其特征是鼻梁短平、鼻小柱短、鼻唇角尖锐、鼻唇周扁平、上唇外凸,以及倾向于 III 级错颌畸形。BP 的病因多种多样,具有不同的特征和结果。BP 的超声波特征是面中部发育不良,鼻骨垂直,鼻翼短小,鼻尖和耳翼扁平,鼻额角大于 140 度。在本病例系列中,我们介绍了七例产前发现的 BP 病例、其不同的病因、处理方法以及两年随访的结果。我们的结论是,面部畸形(如 BP)的诊断会给父母带来很多担忧和痛苦,需要进行多次检查和咨询。在断定所观察到的特征是正常的还是病态的之前,应先考虑正常的家族相貌。准确的诊断、充分的检查和个性化的咨询将有助于避免不必要的终止妊娠,并确保围产期的最佳结果。
Binder Phenotype—Prenatal Diagnosis, Management, and Postnatal Outcome: Insights from a Case Series and Updated Review of the Literature
Binder phenotype (BP) or maxillonasal dysplasia is a developmental disorder of the anterior part of the maxilla and nasal complex and is characterized by a short nose with a flat nasal bridge, short columella, acute nasolabial angle, perialar flatness, convex upper lip, and tendency to a class III malocclusion. The etiology of BP is heterogeneous with diverse features and outcomes. The ultrasound features of BP are midfacial hypoplasia with verticalized nasal bones, short columella with flattened tip and alar wings, and the nasofrontal angle measuring >140 degrees. In this case series, we present seven cases of BP detected antenatally, their varied etiology, management, and outcomes with a 2-year follow-up. We conclude that the diagnosis of facial dysmorphisms, such as BP, brings a lot of apprehension and agony in the parents amounting to multiple tests and counseling sessions. Physiognomy which is the normal familial appearance should be considered before concluding whether the observed feature is normal or pathological. Accurate diagnosis, adequate testing, and personalized counseling will help in the prevention of needless termination of pregnancies and ensure an optimal perinatal outcome.
期刊介绍:
Journal of Fetal Medicine is the official journal of the Society of Fetal Medicine affiliated with International Society of Ultrasound in Obstetrics & Gynecology. This is a peer-reviewed international journal featuring articles with special interest to fetal medicine specialists, geneticists and ulstrasonologists. The aim of the journal is to communicate the results of original research in the field of fetal medicine. It includes a variety of articles suitable for clinicians and scientific specialists concerned with diagnosis and therapy of fetal disorders. All articles on health promotion of the fetus are acceptable for publication. The major focus is on highlighting the work that has been carried out in India and other developing countries. It also includes articles written by experts from the West. Types of articles published: - Original research articles related to fetal care and basic research - Review articles - Consensus guidelines for diagnosis and treatment - Case reports - Images in Fetal Medicine - Brief communications