Diagnosis and treatment in holoprosencephaly

VernacularTitle:前脑无裂畸形诊断与治疗
Author: Zhiyan WANG ¹ ; Tao SONG
Author Information

1. 中国医学科学院北京协和医学院整形外科医院唇腭裂治疗中心，北京　100144
Keywords: Holoprosencephaly; Prenatal diagnosis; Trisomy 13 syndrome; Craniomaxillofacial malformation
From: Chinese Journal of Plastic Surgery 2024;40(3):325-330
CountryChina
Language:Chinese
Abstract: Holoprosencephaly (HPE) is a prevalent malformation of the human forebrain, with an increasing annual prevalence in China. Its etiology remains unclear, and its diagnosis and treatment are challenging due to the heterogeneity of clinical manifestations. This article summarizes and expounds the etiology, clinical manifestations, imaging and genetic diagnosis, as well as medical and surgical treatment of HPE. The aim is to enhance medical personnels’ understanding of this disease, and to facilitate early diagnosis and treatment of patients with HPE.