PDF(Pubmed)
Abstract：
Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low-set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.
摘要：
致命多发性翼状胬肉综合征是一种非常罕见的遗传性疾病。这种情况的表现包括胎儿生长不足，颅面异常,关节挛缩,和皮肤织带（翼状）。这种疾病在出生前或出生后不久是致命的。我们报告了一例致命的多发性翼状胬肉综合征，包括翼状胬肉累及腋窝，双侧肘前窝，还有腹股沟.累及多个下肢和上肢关节的关节发育。腭裂,小口和张口的限制，网状脖子，不对称的小而狭窄的胸部，模棱两可的生殖器,凹陷和宽阔的鼻梁，前球形倾斜，低设定，畸形,耳朵向后旋转，翼状突起,手和火箭底脚的并举和坎托迪。LMPS是一种先天性遗传疾病，具有多种异常，在怀孕的第二和第三个三个月或出生后不久是致命的。通过基因检测和咨询，它可以防止在随后的怀孕中复发。
