PDF(Pubmed)
Abstract：
Escobar syndrome (nonlethal type of multiple pterygium syndrome) is a very rare genetic disorder. The central manifestations of Escobar syndrome are the presence of multiple pterygia, fixed joint contractures, and characteristic facies. Here, we report a case of Escobar syndrome with additional features such as monodactyly and hypoplastic pectoralis muscle.
摘要：
Escobar综合征（非致命性多发性翼状胬肉综合征）是一种非常罕见的遗传性疾病。Escobar综合征的主要表现是多发性翼状痛，固定关节挛缩,和特征相。这里,我们报告了一例Escobar综合征，并伴有单指肌和胸肌发育不全等其他特征。
