نتایج جستجو برای: metaphyseal chondrodysplasia
تعداد نتایج: 2147 فیلتر نتایج به سال:
The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group ...
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...
Agnella D. Izzo, MS, Claus-Peter Richter, MD, PhD,* E. Duco Jansen, PhD, and Joseph T. Walsh, Jr., PhD Department of Biomedical Engineering, Northwestern University, 2145 Sheridan Road, Evanston, Illinois 60208 Department of Otolaryngology, Feinberg Medical School, Northwestern University, 303 E. Chicago Avenue, Chicago, Illinois 60611 Department of Biomedical Engineering, Vanderbilt University...
Cortical Malformations and Networks. Malformations of cortical development (MCD) are highly epileptogenic brain lesions and patients usually become resistant to antiepileptic drug treatment. The histopathological spectrum of MCDs is large, ranging from prominent to only minute lesions. The association between MCDs and epileptogenesis has not been clarified so far but recent data promote the ide...
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