نتایج جستجو برای: maccune albright syndrome
تعداد نتایج: 622258 فیلتر نتایج به سال:
In 1937, Fuller Albright first described two rare genetic disorders: Vitamin D resistant rickets and polyostotic fibrous dysplasia, now respectively known as X-linked hypophosphatemic rickets (XLH) and the McCune-Albright syndrome. Albright carefully characterized and meticulously analyzed one patient, W.M., with vitamin D-resistant rickets. Albright subsequently reported additional carefully p...
Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of developmental and skeletal defects that may easily be misdiagnosed as exogenous obesity in children. There are very few publications detailing the comprehensive management of children and adolescents with this disorder. This chapter provides a comprehensive discussion of the various aspects of t...
albright syndrome is a rare condition, usually appears in the early years of life and characterized by bending or thickening of long bones. in girls, of endocrine glands disorders especially precocious puberty are the most common symptoms. also, brown pigments in the skin are another sing of this syndrome. certain mucosal and skin pigments are considerable features of the disease. etiology and ...
The presented clinical case describes orphan disease known as MAS with manifested symptoms of precocious puberty, recurrent ovarian cysts, fibrous dysplasia, café-au-lait skin pigmentation and abnormal cardiac conduction. pathogenesis is based on the GNAS gene mutation that cause hyperactivation glycoprotein hormone receptors hypersecretion. There are genetic tests confirm diagnosis, however, g...
Cushing syndrome is uncommon in childhood and rare in infancy. We report the case of a 3-yr-old child who presented with symptoms of Cushing syndrome beginning shortly after birth. Her hypercortisolemia was cyclical, causing relapsing and remitting symptoms, which eventually led to suspicions of possible Munchausen syndrome by proxy. Investigation at the National Institutes of Health excluded e...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید