丹迪-沃克畸形合并轴后多指畸形：一例新的皮尔坎综合征病例。
Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome.
作者信息
Passalacqua Cristóbal A, Villegas Victor P, Aracena Mariana I, Mellado Cecilia X
机构信息
Department of Pediatrics, Hospital Carlos Van Buren, Valparaíso Division of Pediatrics, Pontificia Universidad Católica de Chile Genetics Unit, Hospital Luis Calvo Mackenna Genetics Unit, Hospital Sótero del Río, Santiago, Chile.
出版信息
Clin Dysmorphol. 2013 Apr;22(2):51-53. doi: 10.1097/MCD.0b013e32835cfb73.
PMID:23324646
Abstract
The combination of Dandy-Walker malformation, other central nervous system anomalies, and postaxial polydactyly has been reported previously in two pairs of siblings. We propose the name 'Pierquin syndrome' for this combination and we report a new patient with this disorder.
摘要
丹迪-沃克畸形、其他中枢神经系统异常和轴后多指畸形的组合先前已在两对兄弟姐妹中被报道过。我们为这种组合提出“皮尔坎综合征”这一名称，并报告了一名患有该疾病的新患者。
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