PDF(Pubmed)
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：
Weyers肩面骨发育不良（WAD）是一种罕见的骨骼发育不良，是常染色体显性遗传,临床症状表现为牙齿异常，多指,指甲营养不良,身材矮小。它也被称为“Curry-Hall综合征”，据报道与染色体4p16上的基因突变有关，据报道该区域通常与类似的遗传综合征有关。Ellis-vanCreveld（EVC）综合征。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，不像WAD。在这种情况下,一名15岁的女孩出现甲营养不良，手脚多指，microdontia,或者牙齿发育不全，呈圆锥形，身材矮小.病人从出生起就有指甲营养不良,身高方面的身体生长与年龄方面的正常生长参数不匹配。患者也有锥形牙齿的异常凹陷，其余临床表现提示WAD。
