Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi · 2014
Fanconi anemia with cleft palate.
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.
Jurca A, Kinga Kozma, Bembea M, Gug Cristina, Jurca Claudia
Аннотация
UNLABELLED: Fanconi anemia (FA) is a rare plurimalformative syndrome (1/350,000 newborns) presenting a large phenotypic heterogeneity, chromosomal instability and autosomal recessive inheritance (OMIM 227650).
CASE PRESENTATION: Male patient followed in the genetics service since infancy, till death. The child was referred for multiple congenital anomalies: bilateral aplasia of the radius and thumb, left kidney agenesis, cardiac malformation cleft palate, bilateral cryptorchidism, ear anomalies, which were associated, in time, with facial hyperpigmentation, anomalies of dental eruption, nasal septum deviation, and lumbar scoliosis. By the age of 10 years, he develop progressive pancytopenia, aplastic anemia. The diagnosis was completed by medulogram, immunogram, and karyotype. Treatment was primarily hematologic with substitution products, immunosuppressive, marrow stimulants, antibiotic therapy. Death occurred at age of 16 by infection and pulmonary hemorrhage occurred in severe pancytopenia.
CONCLUSIONS: It is presented a rare case of Fanconi anemia customized by the clinical association with cleft palate and instructive clinical and evolutionary complexity.
CASE PRESENTATION: Male patient followed in the genetics service since infancy, till death. The child was referred for multiple congenital anomalies: bilateral aplasia of the radius and thumb, left kidney agenesis, cardiac malformation cleft palate, bilateral cryptorchidism, ear anomalies, which were associated, in time, with facial hyperpigmentation, anomalies of dental eruption, nasal septum deviation, and lumbar scoliosis. By the age of 10 years, he develop progressive pancytopenia, aplastic anemia. The diagnosis was completed by medulogram, immunogram, and karyotype. Treatment was primarily hematologic with substitution products, immunosuppressive, marrow stimulants, antibiotic therapy. Death occurred at age of 16 by infection and pulmonary hemorrhage occurred in severe pancytopenia.
CONCLUSIONS: It is presented a rare case of Fanconi anemia customized by the clinical association with cleft palate and instructive clinical and evolutionary complexity.