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一名29岁的帕陶综合征患者:医疗管理病例报告

A 29-Year-Old Patient With Patau Syndrome: A Case Report on Medical Management.

作者信息

Gandhi Shirley M, Patel Pruthvi, Carter Taylor, Stutts Larry

机构信息

Internal Medicine - Pediatrics, Alabama College of Osteopathic Medicine, Dothan, USA.

Internal Medicine, Alabama College of Osteopathic Medicine, Dothan, USA.

出版信息

Cureus. 2024 Jan 1;16(1):e51471. doi: 10.7759/cureus.51471. eCollection 2024 Jan.

Abstract

Patau syndrome (trisomy 13) is a chromosomal abnormality with multiple malformations due to an additional copy of chromosome 13. This genetic condition has a systemic impact on the development of the human body, which can result in, but is not limited to, microphthalmia, microcephaly, low-set ears, cleft palate, cardiac abnormalities, and abdominal wall defects. It is associated with severe physical and intellectual disabilities and a limited lifespan. Here, we present a 29-year-old female with a high suspicion of the mosaic form of Patau syndrome. She decided to opt for an elective robotic-assisted vaginal hysterectomy (RAVH) due to worsening menorrhagia and recurrent miscarriages. In addition, the importance of medical interventions from surgery to anesthesia is discussed, with their role in improving the quality of life of the patient.

摘要

帕陶综合征(13三体综合征)是一种染色体异常疾病,因额外的一条13号染色体而导致多种畸形。这种遗传病症会对人体发育产生全身性影响,可导致但不限于小眼畸形、小头畸形、低位耳、腭裂、心脏异常和腹壁缺陷。它与严重的身体和智力残疾以及有限的寿命相关。在此,我们报告一名29岁女性,高度怀疑患有嵌合型帕陶综合征。由于月经过多和反复流产加重,她决定选择择期机器人辅助阴道子宫切除术(RAVH)。此外,还讨论了从手术到麻醉的医疗干预措施的重要性,以及它们在改善患者生活质量方面的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9469/10829937/44581240ce27/cureus-0016-00000051471-i01.jpg

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