前脑无裂畸形是人类常见的前脑畸形，其年患病率在我国呈上升趋势。目前病因仍不明确，临床表现异质性较大，对其诊断、治疗具有挑战性。该文对前脑无裂畸形的病因、临床表现、影像学和遗传学诊断以及内外科治疗进展等方面进行总结和阐述，以便加强医务人员对此类疾病的认识，及早诊断、治疗前脑无裂畸形患者。 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.
Diagnosis and treatment in holoprosencephaly
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.
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