Hydrocephalus and primary ciliary dyskinesia.
نویسندگان
چکیده
Primary ciliary dyskinesia was shown in a 12 year old boy with bronchiectasis who had developed hydrocephalus in the neonatal period. The possible relevance of his ciliary abnormality is discussed.
منابع مشابه
گزارش دو مورد اختلال حرکت اولیه مژک ها (گزارش مورد)
Primary ciliary dyskinesia and Kartagener's syndrome are rare genetic disorders. There is a ciliary dysfunction in these disorders that cause recurrent infections in respiratory and sinus tracts associated with dextrocardia, chronic vasomotor rhinitis and dextrocardia. The aim of this paper is to report two rare cases of Primary ciliary dyskinesia, including one case of primary ciliary dyskin...
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Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% of cases. Cilia dysfunction is also implicated in a wider spectrum of disease, including polycystic liver and kidney disease, central nervous system problems including retinopathy and hydrocephalus, and...
متن کاملPrimary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abnormalities of cilia. Presentation is often in the neonatal period, but there are age-related differences in presentation, and diagnosis is often delayed. The usual clinical picture is of recurrent upper and lower respiratory symptoms (rhinitis, glue ear, recurrent cough and spu...
متن کاملMild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.
Primary ciliary dyskinesia (PCD), also referred to as immotile-cilia syndrome or Kartagener syndrome, is a group of genetic disorders caused by defective cilia leading to chronic sinupulmonary infection, situs inversus and reduced fertility. Some PCD patients also have cerebral ventriculomegaly or hydrocephalus. We report here two fetuses and one newborn with mild cerebral ventriculomegaly and ...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 59 5 شماره
صفحات -
تاریخ انتشار 1984