A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases
نویسندگان
چکیده
منابع مشابه
a comparison of linguistic and pragmatic knowledge: a case of iranian learners of english
در این تحقیق دانش زبانشناسی و کاربردشناسی زبان آموزان ایرانی در سطح بالای متوسط مقایسه شد. 50 دانش آموز با سابقه آموزشی مشابه از شش آموزشگاه زبان مختلف در دو آزمون دانش زبانشناسی و آزمون دانش گفتار شناسی زبان انگلیسی شرکت کردند که سوالات هر دو تست توسط محقق تهیه شده بود. همچنین در این تحقیق کارایی کتابهای آموزشی زبان در فراهم آوردن درون داد کافی برای زبان آموزان ایرانی به عنوان هدف جانبی تحقیق ...
15 صفحه اولHypothalamic Hamartomas: Two Cases
This is a MRI study of two patients presented with history of gelastic seizures since many years ago. Plain and post intravenous gadolinium multiplanar MRI imaging of the brain is performed. It showed well-defined non-enhancing mass lesions in the region of hypothalamus and tuber cinereum. It showed signal intensity similar to the gray matter and imaging diagnosis of hypothalamic hamartoma is m...
متن کاملFamilial Lichen Planus: Report of 4 cases in a family
Although lichen planus is a fairly common disorder, its familial occurrence is uncommon and varies between 1.5 and 10.7%. In most reports, only two or three members of the family have had disease but occasionally more family members may be affected. We present a case of lichen planus, whose father, mother, and maternal aunt also had this disease.
متن کاملPractice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report
We present 2 cases of likely rare event. In case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...
متن کاملClinical manifestations of Lichen Planus: A report of 120 cases
Background: Lichen planus (LP) is an idiopathic papulosquamous disorder, which can show cutaneous or mucosal signs. It is caused by a cell mediated immune response to an antigen. A wide range of clinical manifestations has been reported. Objective: To determine the sex and age frequency and clinical presentations of this disease in patients referred to Razi hospital in Tehran. Patients and Meth...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurosurgery: Pediatrics
سال: 2019
ISSN: 1933-0707,1933-0715
DOI: 10.3171/2018.7.peds18292