Ritscher-Schinzel syndrome, or 3C (cranio-cerebello-cardiac) syndrome is a developmental disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare disease with an incidence of 1/1,000,000...Ritscher-Schinzel syndrome, or 3C (cranio-cerebello-cardiac) syndrome is a developmental disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare disease with an incidence of 1/1,000,000 inhabitants, and was first described by Ritscher-Schinzel in 1987. 3C syndrome is an autosomal recessive disease caused by a mutation on the long arm of chromosome 8 to 8q24.13, the KIAA0196 locus, the strumpellin protein gene. The cardiac and cerebral anomalies are most often leading cause of death at an early age and people with 3C syndrome rarely exceed 40 years. In this paper, we report a case of Ritscher-Schinzel in 3-month-old boy who was admitted to our neurosurgical department in September 2020. Clinical examination revealed a macrocrania with head circumference at 47 cm. There was a prominence of forehead and occiput, the root of the nose which was flat, hypertelorism and micrognatism. The CT scan revealed Dandy WALKER malformation with cystic dilation of the 4th ventricle, an aplasia of the cerebellar vermis associated with a tretraventricular hydrocephalus.展开更多
Introduction:The occurrence of congenital anomalies is one of the serious challenges in the world.Therefore,identifying related factors to reduce it is of particular importance.This study aimed to determine the incide...Introduction:The occurrence of congenital anomalies is one of the serious challenges in the world.Therefore,identifying related factors to reduce it is of particular importance.This study aimed to determine the incidence and factors related to congenital anomalies.Methods:An epidemiology study was conducted on 1567 infants and their parents in Kermanshah,Iran.The required information was extracted from the ffles of mothers in health centers.The data collection tool was a researcher-made checklist of 39 questions.The data was statistically analyzed with the STATA version 14 software.Result:The incidence of congenital anomalies was 2.9%(n=45).Brain anomalies(n=10)and pulmonary anomalies(n=8)were the most common congenital anomalies in newborns.The results showed that parents’age(p=0.001),place of residence(p=0.022),mother’s occupation(p=0.010),hemoglobin level(p=0.002),blood pressure disorders(p=0.001),bleeding during pregnancy(p=0.001),infection during pregnancy(p=0.001),multivitamins(p=0.002)and women’s previous birth records such as previous abnormal birth history(p=0.015),abortion history(p=0.001),stillbirth history(p=0.001),birth history of infant less than 2500 g(p=0.001)was found to have a statistically signiffcant relationship with congenital anomalies.Conclusion:The incidence of congenital anomalies was high in Kermanshah city.Considering the identiffcation of risk factors and preventive factors related to congenital anomalies,it is suggested that interventions be carried out in health centers to increase awareness among pregnant women to reduce the incidence of anomalies.展开更多
文摘Ritscher-Schinzel syndrome, or 3C (cranio-cerebello-cardiac) syndrome is a developmental disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare disease with an incidence of 1/1,000,000 inhabitants, and was first described by Ritscher-Schinzel in 1987. 3C syndrome is an autosomal recessive disease caused by a mutation on the long arm of chromosome 8 to 8q24.13, the KIAA0196 locus, the strumpellin protein gene. The cardiac and cerebral anomalies are most often leading cause of death at an early age and people with 3C syndrome rarely exceed 40 years. In this paper, we report a case of Ritscher-Schinzel in 3-month-old boy who was admitted to our neurosurgical department in September 2020. Clinical examination revealed a macrocrania with head circumference at 47 cm. There was a prominence of forehead and occiput, the root of the nose which was flat, hypertelorism and micrognatism. The CT scan revealed Dandy WALKER malformation with cystic dilation of the 4th ventricle, an aplasia of the cerebellar vermis associated with a tretraventricular hydrocephalus.
文摘Introduction:The occurrence of congenital anomalies is one of the serious challenges in the world.Therefore,identifying related factors to reduce it is of particular importance.This study aimed to determine the incidence and factors related to congenital anomalies.Methods:An epidemiology study was conducted on 1567 infants and their parents in Kermanshah,Iran.The required information was extracted from the ffles of mothers in health centers.The data collection tool was a researcher-made checklist of 39 questions.The data was statistically analyzed with the STATA version 14 software.Result:The incidence of congenital anomalies was 2.9%(n=45).Brain anomalies(n=10)and pulmonary anomalies(n=8)were the most common congenital anomalies in newborns.The results showed that parents’age(p=0.001),place of residence(p=0.022),mother’s occupation(p=0.010),hemoglobin level(p=0.002),blood pressure disorders(p=0.001),bleeding during pregnancy(p=0.001),infection during pregnancy(p=0.001),multivitamins(p=0.002)and women’s previous birth records such as previous abnormal birth history(p=0.015),abortion history(p=0.001),stillbirth history(p=0.001),birth history of infant less than 2500 g(p=0.001)was found to have a statistically signiffcant relationship with congenital anomalies.Conclusion:The incidence of congenital anomalies was high in Kermanshah city.Considering the identiffcation of risk factors and preventive factors related to congenital anomalies,it is suggested that interventions be carried out in health centers to increase awareness among pregnant women to reduce the incidence of anomalies.
