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Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report.
Ogawa, Shiori; Mariya, Tasuku; Fujibe, Yuya; Ogawa, Marie; Ikeda, Keiko; Mizukami, Miyako; Kuno, Yoshika; Ishikawa, Aki; Ishioka, Shinichi; Sakurai, Akihiro; Saito, Tsuyoshi.
Afiliación
  • Ogawa S; Departments of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Mariya T; Departments of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Fujibe Y; Departments of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Ogawa M; Departments of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Ikeda K; Departments of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Mizukami M; Departments of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Kuno Y; Departments of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Ishikawa A; Departments of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Ishioka S; Departments of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Sakurai A; Departments of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Saito T; Departments of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan.
Case Rep Womens Health ; 33: e00384, 2022 Jan.
Article en En | MEDLINE | ID: mdl-35079579
Ehlers-Danlos syndrome is a rare genetic disorder that presents with a variety of pathologies depending on the disease type. Among them, vascular Ehlers-Danlos syndrome requires extremely careful management as there have been many reports of fatal perinatal complications such as uterine rupture. Although hypermobile Ehlers-Danlos syndrome is less likely to cause fatal complications, symptoms such as arthralgia, hip dislocation, and depression may be seen throughout pregnancy. We report here a case of twin pregnancy in which Ehlers-Danlos syndrome was first suspected at 19 weeks of gestation. Vascular Ehlers-Danlos syndrome could not be ruled out based on family medical history, making it difficult to determine the perinatal management strategy. Prompt genetic testing did however rule out the vascular type and the patient was diagnosed with hypermobile Ehlers-Danlos syndrome from the clinical symptoms, enabling us to manage the pregnancy safely until 34 weeks of gestation.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Case Rep Womens Health Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Case Rep Womens Health Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos