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魏尔斯综合征:一例报告

Weyers Acrofacial Dysostosis: A Case Report.

作者信息

Jain Aditya M, Taksande Amar, Gaikwad Sarika, Nath Ritwik, Javvaji Chaitanya Kumar

机构信息

Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

出版信息

Cureus. 2024 Jan 29;16(1):e53135. doi: 10.7759/cureus.53135. eCollection 2024 Jan.

Abstract

Weyers acrofacial dysostosis (WAD) is a rare skeletal dysplasia, which is autosomal-dominant, and the clinical symptoms are presented as dental anomalies, polydactyly, nail dystrophy, and short physical stature. It is also termed "Curry‑Hall syndrome" and reported to be linked to genetic mutations mapped on chromosome 4p16, the region reported being commonly associated with a similar genetic syndrome, Ellis-van Creveld (EVC) syndrome. Most individuals with EVC have congenital heart abnormalities, most often atrial septal defects, unlike WAD. In this case, a 15‑year‑old girl presented with onychodystrophy and polydactyly observed in the hands and feet, microdontia, or agenesis of teeth, which were conical in shape, with a short stature. The patient had dystrophy of nails since birth, and physical growth in terms of height did not match the normal growth parameters with respect to age. The patient also had abnormal dentation with conical-shaped teeth, with the rest of the clinical presentations suggestive of WAD.

摘要

魏尔斯肢端面骨发育异常(WAD)是一种罕见的骨骼发育不良症,为常染色体显性遗传,临床症状表现为牙齿异常、多指(趾)畸形、指甲营养不良以及身材矮小。它也被称为“柯里 - 霍尔综合征”,据报道与位于4号染色体p16区域的基因突变有关,该区域通常与一种类似的遗传综合征——埃利斯 - 范克里弗德(EVC)综合征相关。与WAD不同的是,大多数EVC患者患有先天性心脏异常,最常见的是房间隔缺损。在这个病例中,一名15岁女孩出现了手脚的指甲营养不良和多指(趾)畸形、小牙畸形或牙齿缺失,牙齿呈锥形,身材矮小。患者自出生以来就有指甲营养不良,身高方面的身体生长不符合其年龄的正常生长参数。患者还存在牙齿异常,牙齿呈锥形,其余临床表现提示为WAD。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f019/10900176/7b077d27240d/cureus-0016-00000053135-i01.jpg

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