نتایج جستجو برای: vermian dysgenesis
تعداد نتایج: 2723 فیلتر نتایج به سال:
A case of a 45,X/46,XY boy with gonadal dysgenesis is presented. The patient showed hypospadias and right undescended testis. He underwent underwent repair surgery for hypospadias, right orchidopexy, and bilateral testicular biopsy. Testicular biopsy revealed no malignant finding. He was followed-up annually by scrotum palpation. When the patient grew up to 24 years old, he was diagnosed to hav...
46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of sec...
A 46-year-old man with cerebral palsy presented with complex partial seizures and left sided clonic movements. EEG showed right hemispheric seizures (figure 1). MRI demonstrated dysgenesis of the corpus callosum (figure 2, A and B) with hyperintense signal throughout the right cortex in diffusion-weighted imaging (DWI) (figure 2C) corresponding with decreased apparent diffusion coefficient sign...
We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vo...
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