International journal of surgery case reports · 2025
Atypical Fibrodysplasia Ossificans Progressiva in a child: A case report.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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.
Noufal Abdullah, Alsharef Yaman, Alainein Aya Abou, Adi Mohammad, Jumaa Ali, Alfandi Abdullah
Аннотация
INTRODUCTION AND IMPORTANCE: Fibrodysplasia Ossificans Progressiva (FOP) is an exceptionally rare genetic disorder characterized by progressive heterotopic ossification of soft tissues and congenital skeletal anomalies.
CASE PRESENTATION: This report presents the case of a 12-year-old boy with hallmark features of FOP alongside rare congenital abnormalities, including bilateral microdactyly and thumb adhesion to the palms.
CLINICAL DISCUSSION: Initially misdiagnosed as muscular dystrophy, the patient's condition deteriorated under inappropriate management. Genetic testing confirmed a heterozygous mutation (c.617G > A; p.R206H) in the ACVR1 gene.
CONCLUSION: This case highlights the importance of early recognition of atypical congenital malformations in FOP, the risks of invasive interventions, and the necessity for genetic confirmation to prevent iatrogenic harm. A comprehensive review of the literature is also provided.
CASE PRESENTATION: This report presents the case of a 12-year-old boy with hallmark features of FOP alongside rare congenital abnormalities, including bilateral microdactyly and thumb adhesion to the palms.
CLINICAL DISCUSSION: Initially misdiagnosed as muscular dystrophy, the patient's condition deteriorated under inappropriate management. Genetic testing confirmed a heterozygous mutation (c.617G > A; p.R206H) in the ACVR1 gene.
CONCLUSION: This case highlights the importance of early recognition of atypical congenital malformations in FOP, the risks of invasive interventions, and the necessity for genetic confirmation to prevent iatrogenic harm. A comprehensive review of the literature is also provided.