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一名患有颅骨过早融合、喙状鼻和腭裂的新生儿的Apert综合征:病例报告。

Apert syndrome in a newborn with premature fusion of skull bones, a rostral nose, and cleft palate: A case report.

作者信息

Faraji Navid, Goli Rasoul, Atharifar Reza, Shahmirza Noushin

机构信息

Department of Medical-Surgical Nursing, School of Nursing and Midwifery Urmia University of Medical Sciences Urmia Iran.

Department Nursing, School of Nursing and Midwifery Urmia University of Medical Sciences Urmia Iran.

出版信息

Clin Case Rep. 2024 Aug 15;12(8):e9298. doi: 10.1002/ccr3.9298. eCollection 2024 Aug.

Abstract

This case details a term neonate with Apert syndrome, featuring webbed digits, FGFR2 mutations, skull bone fusion, a rostral nose, and cleft palate. The neonate displayed acrocephaly, a flat skull back, a prominent forehead, and syndactyly, confirming Apert syndrome. It emphasizes the need for early recognition and intervention.

摘要

该病例详细介绍了一名患有Apert综合征的足月儿,其特征为并指、FGFR2基因突变、颅骨融合、鼻尖呈喙状及腭裂。该新生儿表现出头尖畸形、扁平的颅后、突出的前额及并指,确诊为Apert综合征。强调了早期识别和干预的必要性。

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