Results 31 to 40 of about 5,970 (200)
Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort [PDF]
Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation.
Bjornsdottir, Sigridur +4 more
core +1 more source
Sindrom McCune Albright Dengan Manifestasi Fraktur Berulang [PDF]
Abstrak Sindrom McCune-Albright (SMA) merupakan kelainan genetik kompleks yang ditandai dengan trias displasia fibrosa poliostotik, café-au-lait, dan hiperfungsi endokrin. Sindrom ini termasuk penyakit langka dengan prevalens sebesar 1 per 100.000 hingga
Nadya, Ruth, Soesanti, Frida
core +2 more sources
Atualização em etiologia, diagnóstico e manejo da precocidade sexual [PDF]
Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious puberty (GDPP) results from the premature activation of the hypothalamic ...
ARNHOLD, Ivo J. P. +3 more
core +2 more sources
This article reports quantitative measurements of intracranial volume, optic canal area, and peripapillary retinal nerve fiber layer (RNFL) for a cohort of 124 patients with craniofacial fibrous dysplasia/McCune-Albright Syndrome (FD/MAS), previously ...
Layne N. Raborn +4 more
doaj +1 more source
McCune-Albright syndrome constitutes of fibrous dysplasia, café-au-lait macules, and various endocrinopathies such as thyroid, cortisol, prolactin and growth hormone hypersecretion.
Hande Peynirci, Onur Elbasan
doaj +1 more source
A case report: retigabine induced oral mucosal dyspigmentation of the hard palate [PDF]
Background Dyspigmentation of the oral mucosa has a multitude of aetiological causes. Retigabine, a new antiepileptic drug, has the potential side effect of inducing a blue/purple pigmentation of the oral mucosa in addition to the skin, lips, nails and ...
Beacher, Nicholas G. +2 more
core +1 more source
Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome [PDF]
Persistent autonomous ovarian dysfunction in McCune-Albright syndrome (MAS) patients is associated with the development of multiple dominant follicles, premature luteinization, cyst formation, and anovulatory infertility.
Fauser, B.C.J.M. (Bart) +3 more
core +3 more sources
McCune-Albright-Braytsev syndrome: literature review and clinical case
The paper presents the results of literature review on McCune-Albright-Braytsev syndrome and describes the clinical case of this syndrome. McCune-Albright-Braytsev syndrome is a genetically determined disease, usually characterized by a triad of ...
T.V. Sorokman +2 more
doaj +1 more source
Allergic manifestations and cutaneous histamine responses in patients with McCune Albright syndrome
Background McCune Albright syndrome (MAS) is a rare disorder characterized by precocious puberty, café-au-lait spots, and fibrous dysplasia. Its cause is an activating mutation in the GNAS gene, encoding a subunit of the stimulatory G protein, Gsalpha ...
Jill D Jacobson +2 more
doaj +1 more source
McCune-Albright syndrome (MAS) is a very rare disease characterizedby the triad of bone defects, skin hyperpigmentation, andvarious types of endocrine and non-endocrine manifestations.
Juraj Payer +6 more
doaj +2 more sources

