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伴有9号染色体致病性微缺失的半椎体

Hemivertebra with pathogenic microdeletion of chromosome 9.

作者信息

Dorjey Yeshey, Gyeltshen Tashi

机构信息

Department of Obstetrics and Gynecology, Phuentsholing General Hospital Chukha Bhutan.

Department of Radioimaging and Diagnosis, Jigme Dorji Wangchuk National Referral Hospital Thimphu Bhutan.

出版信息

Clin Case Rep. 2024 Apr 7;12(4):e8750. doi: 10.1002/ccr3.8750. eCollection 2024 Apr.

Abstract

Hemivertebra is a rare congenital abnormality of the spinal column. Hemivertebra with other structural and cytogenetic abnormalities are reported. The prognosis is favorable with partial hemivertebra and with a single spinal defect as compared to a defect involving full segments and affecting different levels of the spines. The perinatal outcome is obscured when it is associated with other syndromes or cytogenetic abnormality. It is imperative to do serial thorough anatomical ultrasound scanning and to screen for chromosomal abnormality when hemivertebra is detected during pregnancy.

摘要

半椎体是一种罕见的脊柱先天性异常。有报道称半椎体伴有其他结构和细胞遗传学异常。与涉及整个节段且影响不同脊柱水平的缺陷相比,部分半椎体和单一脊柱缺陷的预后较好。当它与其他综合征或细胞遗传学异常相关时,围产期结局会受到影响。孕期检测到半椎体时,必须进行系列全面的解剖学超声扫描并筛查染色体异常。

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