Oboli Victor N., Carugno Paola
New York City Health and Hospitals/Lincoln
Lincoln Hospital & Mental Health Center
Pterygium syndrome, alternatively called multiple pterygium syndrome (MPS), is a rare group of different genetic congenital disorders characterized by numerous webbing (pterygia) of the parts of the body (the neck, axilla, antecubital, elbow, interdigital, and popliteal regions), multiple joint contractures (arthrogryposis), and skeletal abnormalities or deformities. Two clinically and genetically different variants of multiple pterygium syndrome exist prenatally, lethal and nonlethal (Escobar) subtypes. The lethal subtype is most severe and diagnosed prenatally with fetal ultrasound during the second trimester with multiple pterygia, hygroma colli, and sometimes stillbirth. The nonlethal variant is Escobar syndrome, which includes numerous pterygia, joint contractures, and distinctive facial features.
翼状胬肉综合征，也称为多发性翼状胬肉综合征（MPS），是一组罕见的不同遗传性先天性疾病，其特征是身体各部位（颈部、腋窝、肘前、肘部、指间和腘窝区域）出现大量蹼状组织（翼状胬肉）、多个关节挛缩（关节弯曲）以及骨骼异常或畸形。多发性翼状胬肉综合征存在两种临床和基因上不同的变异型，即产前致死型和非致死型（埃斯科瓦尔）亚型。致死型最为严重，在孕中期通过胎儿超声产前诊断为多发性翼状胬肉、颈部水囊瘤，有时还会出现死产。非致死型变异型是埃斯科瓦尔综合征，其特征包括大量翼状胬肉、关节挛缩和独特的面部特征。
