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Войти в исследования Birth defects research · 2024
Sirenomelia-Challenges and Treatment Approach in a Rare Case.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Sosińska Daria, Gołębiewski Andrzej, Czauderna Piotr
Аннотация
INTRODUCTION: Sirenomelia is a very rare congenital structural anomaly characterized by abnormal development of the caudal region of the body with varying degrees of fusion of lower limbs. Mostly, the condition is lethal for the baby. Most babies do not survive even after surgery. Fifty percent of cases are seen as stillbirths, and it is much more common in identical twins.
CASE REPORT: We present a case of a boy born in 38th week of gestation (hebdomas graviditatis-HBD) with diagnosed sirenomelia, microcephaly, bilateral renal agenesis, duodenal atresia, imperforate anus, and agenesis of external genitalia. We provide a brief review of the literature and discussion concerning similar cases, determinants, pathogenesis and suspected genetic factors.
CONCLUSIONS: Due to accompanying malformations, there is often no treatment for sirenomelia. Avoidance of risk factors, early diagnosis, multidisciplinary approach and psychological preparation of parents to help them cope emotionally and mentally with the challenges, seem to be the key factors of management. It is very important to diagnose this condition by ultrasonography prenatally so that termination of pregnancy can be carried out.
CASE REPORT: We present a case of a boy born in 38th week of gestation (hebdomas graviditatis-HBD) with diagnosed sirenomelia, microcephaly, bilateral renal agenesis, duodenal atresia, imperforate anus, and agenesis of external genitalia. We provide a brief review of the literature and discussion concerning similar cases, determinants, pathogenesis and suspected genetic factors.
CONCLUSIONS: Due to accompanying malformations, there is often no treatment for sirenomelia. Avoidance of risk factors, early diagnosis, multidisciplinary approach and psychological preparation of parents to help them cope emotionally and mentally with the challenges, seem to be the key factors of management. It is very important to diagnose this condition by ultrasonography prenatally so that termination of pregnancy can be carried out.