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A 29-Year-Old Patient With Patau Syndrome: A Case Report on Medical Management.
Gandhi, Shirley M; Patel, Pruthvi; Carter, Taylor; Stutts, Larry.
Afiliação
  • Gandhi SM; Internal Medicine - Pediatrics, Alabama College of Osteopathic Medicine, Dothan, USA.
  • Patel P; Internal Medicine, Alabama College of Osteopathic Medicine, Dothan, USA.
  • Carter T; Obstetrics and Gynecology, Edward Via College of Osteopathic Medicine, Auburn, USA.
  • Stutts L; Obstetrics and Gynecology, Helen Keller Hospital, Sheffield, USA.
Cureus ; 16(1): e51471, 2024 Jan.
Article em En | MEDLINE | ID: mdl-38298300
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.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article