MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1016/j.crwh.2022.e00384

Медицинская библиотека · Case reports in women's health · 2022

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

Клинический случайСтатьяПеревод в очереди

Аннотация

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.

Для цитирования: Ogawa Shiori, Mariya Tasuku, Fujibe Yuya, Ogawa Marie, Ikeda Keiko, Mizukami Miyako, Kuno Yoshika, Ishikawa Aki, Ishioka Shinichi, Sakurai Akihiro, Saito Tsuyoshi. Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report.. Case reports in women's health. 2022. DOI: 10.1016/j.crwh.2022.e00384.
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.