Diagnosis of G-Protein Gene Mutations in Mc Cune-Albright Syndrome. 15
نویسندگان
چکیده
منابع مشابه
Mc Cune Albright syndrome: estimation of bone strength parameters and response to treatment using peripheral Quantitive Computed Tomography (pQCT) of the tibia
Methods We present a 14y old girl with polyostotic fibrous dysplasia (right humerus, femur, tibia, skull), precocious puberty and café au lait skin spots, diagnosed as MAS with a confirmed heterozygous c.601C>T mutation of the GNAS1 gene. Due to initial bone pain and continuously increasing bone turnover, the patient was treated with iv bisphosphonates for 4 years. We used pQCT to estimate bone...
متن کاملMcCune-Albright syndrome: Report of a case
A 29- year old female with bone pain and history of precocious puberty was referred for bone scintigraphy. On physical examination café au lait macular spots were noted on her neck, buttocks and left leg. Bone scan showed multiple areas of intense increased activity which was in favour of polyostotic fibrous dysplasia. Considering the presence of polyostotic fibrous...
متن کاملA Case of Mccune- Albright Syndrome
Four year old girl was evaluated for precocious puberty. Breast development and pubic hair growth had started at age 2½ year, and had been followed by vaginal bleeding resembling periods. Gaf-au-lait spots were present in most of her skin surface. Bone x-rays showed multiple cysts in pelvis and the metaphysis of femur. Diagnosis of McCune-Albright syndrome was made. Concentrations of all hormon...
متن کاملMcCune - Albright syndrome Claudia
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common...
متن کاملMcCune-Albright syndrome
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1998
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199802000-00038