眼科医生在考虑可能的早期手术干预治疗潜在的致盲性解剖异常时,存在重要意义。作者从眼科角度讨论了不同干预措施的风险和收益,并回顾了证实诊断的基因检测。
作者描述了一名患有FreemanSheldon综合征的婴儿的发现和管理,该婴儿表现为双眼皮眼睑,导致在生命的头几天无法睁开双眼。尽管FreemanSheldon综合征(以前称为吹口哨综合征)的遗传方式通常是常染色体显性遗传,我们的患者没有已知的先天性异常或血缘关系家族史.然而,基因检测证实MYH3存在杂合变异,与常染色体显性遗传FreemanSheldon综合征一致.当我们的病人需要胃造口术(G管放置,我们在麻醉下进行了检查(EUA))。就像FreemanSheldon综合征患者的典型情况一样,插管困难且并发气胸。在生命的几周后,睁开眼睛略有改善;然而,决定继续进行眼睑手术,以防止剥夺性弱视。手术安排在未来的日期。此外,该患者患有左眼先天性鼻泪管阻塞;然而,由于面部解剖结构异常的阻塞,探测和冲洗失败。
FreemanSheldon综合征患者麻醉和手术并发症的风险增加。在进行任何手术干预之前,应与父母/监护人一起强烈考虑和讨论风险和益处。MYH3基因的基因检测可以确认诊断。
Important implications exist for ophthalmologists when considering possible early surgical intervention for potential amblyogenic anatomical abnormalities. The authors discuss the risks and benefits from an ophthalmological perspective of different interventions and review the genetic testing that confirmed the diagnosis.
The authors describe the findings and management of an infant with Freeman Sheldon syndrome presenting with blepharophimosis of both eyelids resulting in inability to open both eyes during the first several days of life. Although the mode of inheritance for Freeman Sheldon syndrome (formerly known as Whistling Face Syndrome) is often autosomal dominant, our patient had no known family history of congenital abnormalities or consanguinity. However, genetic testing confirmed a heterozygous variant in
MYH3, consistent with autosomal dominant Freeman Sheldon Syndrome. When our patient required gastrostomy (G-tube_placement, we performed an exam under anesthesia (EUA)). As is typical for Freeman Sheldon syndrome patients, intubation was difficult and complicated by pneumothorax. Eye-opening improved slightly after several weeks of life; however, the decision was made to proceed with eyelid surgery to prevent deprivation amblyopia. Surgery is scheduled for a future date. Additionally, the patient had congenital nasolacrimal duct obstruction of the left eye; however, a probing and irrigation failed because of obstruction from the abnormal facial anatomy.
Patients with Freeman Sheldon syndrome are at increased risk for complications from anesthesia and surgery. Risks and benefits should be strongly considered and discussed with parent(s)/guardian(s) prior to any surgical intervention. Genetic testing of the
MYH3 gene can confirm the diagnosis.