Abstract：
CHARGE syndrome is a rare autosomal dominant syndrome characterized by multiple congenital anomalies including coloboma, heart defects, ear anomalies, and developmental delay, caused by pathogenic variants in the CHD7 gene. The discovery of the molecular basis of this syndrome increased the number of cases reported and expanded the phenotype and clinical variability. Limb anomalies are occasional clinical findings in this syndrome, present in about 30% of reported cases. The occurrence of limb anomalies in this syndrome suggests that it should be considered as part of the phenotypic spectrum. Here, we describe an individual with CHARGE syndrome presenting unilateral monodactyly.
摘要：
CHARGE综合征是一种罕见的常染色体显性综合征，其特征是包括结肠瘤在内的多种先天性异常，心脏缺陷,耳朵异常,和发育迟缓，由CHD7基因的致病变异引起。该综合征分子基础的发现增加了报告的病例数，并扩大了表型和临床变异性。肢体异常是这种综合征的偶然临床表现，约30%的报告病例。该综合征中肢体异常的发生表明，应将其视为表型谱的一部分。这里,我们描述了一个表现为单侧单指的CHARGE综合征的个体。
