Mymensingh medical journal : MMJ · 2012
Carpenter syndrome: a case report.
Клинический случайСтатьяНазвание 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.
Begum S, Khatun N, Rayhan S M, Rahman S A
Аннотация
Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia. Carpenter syndrome is autosomal recessive disorder and prenatal diagnosis of this syndrome is possible by ultrasonogram during pregnancy. We reported a case of carpenter syndrome of 2.5 months old female infant of consanguineous parents who was admitted in the paediatric ward of Bangabandhu Sheikh Mujib Medical University (BSMMU) on 30th March 2010. She was diagnosed as a case of Carpenter syndrome having acrocephaly prominent ridge of sagital suture, polydactyly, syndyctyly on history, clinical examination findings and investigation reports.