BMC pregnancy and childbirth · 2022
Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
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.
Guo Yongbing, Zhang Huijing, Fan Lixin, Chen Junya, Zhang Xiaoxiao, Yang Huixia, Sun Yu
Аннотация
BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations.
CASE PRESENTATION: A 38-year-old Chinese woman was pregnant with dichorionic-diamniotic (DCDA) twins after in-vitro fertilization. Series of ultrasound examinations indicated that the measurements (abdominal circumference and estimated foetal weight) of one twin were significantly greater than those of the other one. The genetic testing results of the larger baby indicated of Simpson-Golabi-Behmel syndrome.
CONCLUSION: SGBS is difficult to diagnose due to different clinical manifestations. Clinicians need to be more aware of typical SGBS's clinical findings and choose genetic testing methods individually to improve its prenatal diagnosis.
CASE PRESENTATION: A 38-year-old Chinese woman was pregnant with dichorionic-diamniotic (DCDA) twins after in-vitro fertilization. Series of ultrasound examinations indicated that the measurements (abdominal circumference and estimated foetal weight) of one twin were significantly greater than those of the other one. The genetic testing results of the larger baby indicated of Simpson-Golabi-Behmel syndrome.
CONCLUSION: SGBS is difficult to diagnose due to different clinical manifestations. Clinicians need to be more aware of typical SGBS's clinical findings and choose genetic testing methods individually to improve its prenatal diagnosis.