Fayed Mohamed, Giska Mark A, Shievitz Rebekah C, Attali Ami, Younger Joshua
Anesthesiology and Perioperative Medicine, Henry Ford Health System, Detroit, USA.
Anesthesiology, Perioperative Medicine and Pain Management, Henry Ford Health System, Detroit, USA.
Cureus. 2021 Dec 29;13(12):e20802. doi: 10.7759/cureus.20802. eCollection 2021 Dec.
Freeman-Sheldon syndrome (FSS) is an exceedingly rare congenital disorder with an unspecified prevalence. FSS is caused by a mutation in the embryonic skeletal muscle myosin heavy chain 3 gene. Patients may have facial abnormalities that put them at risk of difficult airway intubation. These facial abnormalities include micrognathia, macroglossia, high-arched palate, prominent forehead, and mid-face hypoplasia. Additionally, skeletal abnormalities such as joint contractures, scoliosis with resultant restrictive lung disease, and camptodactyly (bent fingers) can be noted. These features played an important role in the anesthetic management of our FSS patient. Perioperative planning and optimization were crucial in her anesthetic management as she underwent an urgent cesarean section due to preeclampsia with severe features.
弗里曼-谢尔顿综合征(FSS)是一种极为罕见的先天性疾病,患病率不明。FSS由胚胎骨骼肌肌球蛋白重链3基因的突变引起。患者可能存在面部异常,这使他们面临气道插管困难的风险。这些面部异常包括小颌畸形、巨舌症、高拱腭、前额突出和面部中部发育不全。此外,还可发现骨骼异常,如关节挛缩、伴有限制性肺病的脊柱侧弯以及屈曲指(手指弯曲)。这些特征在我们这位FSS患者的麻醉管理中发挥了重要作用。由于该患者因重度子痫前期接受紧急剖宫产,围手术期规划和优化在其麻醉管理中至关重要。