猫眼综合征颅面微畸形表型的重叠谱。

IF 1.2 4区医学 Q3 DENTISTRY, ORAL SURGERY & MEDICINE

Cleft Palate-Craniofacial Journal Pub Date : 2024-09-01 Epub Date: 2023-05-14 DOI:10.1177/10556656231174435

Samira Spineli-Silva, Isabella L Monlleó, Têmis M Félix, Vera L Gil-da-Silva-Lopes, Társis P Vieira

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引用次数: 0

摘要

本研究报告了三名猫眼综合征（CES）患者，其中两名患者曾被临床诊断为颅面小畸形（CFM）。染色体微阵列分析（CMA）显示，所有患者的 22q11.2q11.21 区域均存在 1.7 Mb 的四体综合征，而该区域正是 CES 中典型的三体综合征区域。在 CFM 和 CES 患者中最常见的颅面特征是耳前标记和/或凹陷以及下颌骨发育不良。我们进一步证实，CFM 特征的候选基因，尤其是耳畸形、耳前标记/凹陷和面部不对称，可能位于 22q11.2 区域的近端。

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Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.

This study reports three patients with Cat-eye Syndrome (CES), two of which present a previous clinical diagnosis of Craniofacial microsomia (CFM). Chromosomal microarray analysis (CMA) revealed a tetrasomy of 1,7 Mb at the 22q11.2q11.21 region, which is the typical region triplicated in the CES, in all patients. The most frequent craniofacial features found in individuals with CFM and CES are preauricular tags and/or pits and mandibular hypoplasia. We reinforce that the candidate genes for CFM features, particularly ear malformation, preauricular tags/pits, and facial asymmetry, can be in the proximal region of the 22q11.2 region.

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来源期刊

Cleft Palate-Craniofacial Journal 医学-外科

CiteScore

2.70

自引率

36.40%

发文量

215

期刊介绍： The Cleft Palate-Craniofacial Journal (CPCJ) is the premiere peer-reviewed, interdisciplinary, international journal dedicated to current research on etiology, prevention, diagnosis, and treatment in all areas pertaining to craniofacial anomalies. CPCJ reports on basic science and clinical research aimed at better elucidating the pathogenesis, pathology, and optimal methods of treatment of cleft and craniofacial anomalies. The journal strives to foster communication and cooperation among professionals from all specialties.