Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
Taiwan J Obstet Gynecol. 2012 Mar;51(1):12-7. doi: 10.1016/j.tjog.2012.01.004.
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidism, cardiac defects and intestinal malrotation, and occasional pterygia of the limbs. Multiple pterygium syndrome is a clinically and genetically heterogeneous disorder characterized by pterygia of the neck, elbows and/or knees, arthrogryposis, and other phenotypic features such as short stature, genital abnormalities, craniofacial abnormalities, clubfoot, kyphoscoliosis, and cardiac abnormalities. Fetal akinesia deformation sequence may phenotypically overlap with the lethal type of multiple pterygium syndrome. This article provides a comprehensive review of prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders. Prenatal diagnosis of fetal akinesia along with cystic hygroma, increased nuchal translucency, nuchal edema, hydrops fetalis, arthrogryposis, pterygia, and other structural abnormalities should include a differential diagnosis of neuromuscular junction disorders. Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome, and the information acquired is helpful for genetic counseling and clinical management.
胎儿运动不能序列症是一种临床和遗传异质性疾病，其特征为关节挛缩症、胎儿运动不能、宫内生长受限、囊性水囊瘤、肺发育不良、腭裂、隐睾、心脏缺陷和肠旋转不良等发育异常的可变组合，偶尔也会出现四肢蹼状。多发性翼状胬肉综合征也是一种临床和遗传异质性疾病，其特征为颈部、肘部和/或膝盖的翼状胬肉、关节挛缩症以及身材矮小、生殖器异常、颅面异常、马蹄内翻足、脊柱侧凸和心脏异常等其他表型特征。胎儿运动不能序列症可能与致死型多发性翼状胬肉综合征存在表型重叠。本文全面综述了与神经肌肉接头障碍相关的胎儿运动不能序列症和多发性翼状胬肉综合征的产前诊断和遗传分析。胎儿运动不能伴有囊性水囊瘤、颈项透明层增厚、颈项水肿、胎儿水肿、关节挛缩症、翼状胬肉和其他结构异常的产前诊断应包括神经肌肉接头障碍的鉴别诊断。神经肌肉接头基因如 CHRNA1、CHRND、CHRNG、CNTN1、DOK7、RAPSN 和 SYNE1 的基因突变的遗传分析可能揭示胎儿运动不能序列症和多发性翼状胬肉综合征的发病原因，所获得的信息有助于遗传咨询和临床管理。
