Fetal Medicine Department, Sonepat Fetal Medicine & Genetic Centre, Sunehri Devi Hospital, Sonipat, India.
Fetal Medicine Department, Indraprastha Apollo Hospital, New Delhi, India.
Am J Med Genet A. 2022 Jul;188(7):2178-2183. doi: 10.1002/ajmg.a.62735. Epub 2022 Mar 24.
Amyoplasia is a specific form of arthrogryposis, without any genetic cause. Six to ten percent of amyoplasia cases are one of the monozygotic twins, with the other twin being normal. Failure of maturation of anterior horn cells (AHCs) due to ischemic injury has been postulated as the primary pathological change, leading to arrest in the development of muscle fibers supplied by the affected AHCs with the typical limb positioning seen in amyoplasia. Twin-to-twin transfusion syndrome (TTTS) is an important risk factor for ischemic injury in monozygotic twin pregnancies. We present a case of monochorionic diamniotic twin pregnancy with features of TTTS at 12 weeks who underwent interstitial laser followed by the development of lower limb akinesia in the surviving fetus. Possible causes of amyoplasia are discussed.
先天性关节挛缩症是一种特定的关节挛缩症形式，没有任何遗传原因。6%至 10%的先天性关节挛缩症病例是同卵双胞胎的其中之一，另一个双胞胎是正常的。由于缺血性损伤导致前角细胞（AHCs）成熟失败，被认为是主要的病理变化，导致受影响的 AHCs 所供应的肌肉纤维发育停滞，出现典型的先天性关节挛缩症肢体定位。双胞胎输血综合征（TTTS）是单卵双胞胎妊娠中缺血性损伤的一个重要危险因素。我们报告了一例 12 周时具有 TTTS 特征的单绒毛膜双羊膜囊双胎妊娠，在接受间质激光治疗后，存活胎儿出现下肢运动障碍。讨论了导致先天性关节挛缩症的可能原因。
