A case report describing insights into the imaging of Apert syndrome

Rare Pub Date : 2024-01-01 DOI:10.1016/j.rare.2024.100023
Diksha Goyal, Poonam Sherwani
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Abstract

Apert syndrome is a rare congenital autosomal dominant acrocephalosyndactyly type I syndrome which manifests in the form of various craniofacial, skeletal, and visceral anomalies. The present case reports this rare entity in a 15-month-old who presented with multiple craniofacial abnormalities, craniosynostosis and bilateral symmetrical syndactyly, and after thorough evaluation was diagnosed as a case of Apert Syndrome.

一份描述阿博特综合征影像学见解的病例报告
阿博特综合征是一种罕见的先天性常染色体显性颅脑发育不全 I 型综合征,表现为各种颅面、骨骼和内脏畸形。本病例报告的患者是一名 15 个月大的婴儿,患有多种颅面畸形、颅骨发育不良和双侧对称性联合actyly,经全面评估后被诊断为阿博特综合征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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