European journal of medical genetics · 2019
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.
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.
Ting Chun Yi, Bhatia Neha Singh, Lim Jiin Ying, Goh Chew-Yin Jasmine, Vasanwala Rashida Farhad, Ong Caroline Choo-Phaik, Seow Wan Tew, Yeow Vincent Kok-Leng, Ting Teck Wah, Ng Ivy Swee-Lian, Jamuar Saumya Shekhar
Аннотация
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.