Jouberts Syndrome: A Case Report
نویسندگان
چکیده
Jouberts syndrome is an uncommon autosomal recessive neurodevelopmental disorder involving cerebellar vermis and brain stem. We report a case of 5 year old male boy presented with global developmetal delay, abnormal eye moments and abnormal respiratory moments. On examination decreased muscle tone, nystagmus, and gait ataxia is present. Magnetic resonance imaging (MRI) revealed characteristic Molar tooth sign and bat wing appearence of fourth
منابع مشابه
Brooke-Spiegler Syndrome: a case report
Brooke-Spiegler syndrome is a rare autosomal recessive disease characterized by adnexal neoplasms, particularly trichoepithelioma, cylindroma, and occasionally spiradenoma, which usually develop in second to third decades of life. We report this syndrome in a 16-year-old woman with tumors on face and scalp.
متن کاملGeneralized Form of Peeling Skin Syndrome: A Case Report
Peeling skin syndrome (PSS) is a very rare keratinization disorder, characterized by spontaneous exfoliation of the stratum corneum. Herein, we report a case of non-inflammatory (type A) PSS.
متن کاملGoltz syndrome: a case report from Iran
Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis involving all three embryonic layers. Herein, the first case of this syndrome from Iran will be reported. The main clinical features were fat herniation, reticulate pigmentations, telangiectasia, and skeletal defects.
متن کاملApert Syndrome: A Case Report
Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. itchr('39')s incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parentchr('39')s quality of life.We report a case of Apert syndrome and his occupational therapy program.
متن کاملLEOPARD syndrome: Report of a case
LEOPARD syndrome is an autosomal dominant hereditary disease, which is characterized with cutaneous pigmented patches, electrocardiographic changes, ocular hypertelorism, retarded growth, pulmonic stenosis, genital abnormalities and congenital deafness. The gene of this disease have high penetrance but expression is varied and incomplete forms may be seen. We report a 23 year-old woman wi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2013