Results 91 to 100 of about 6,163 (220)

McCune Albright syndrome: A case report with review of literature

open access: yesJournal of Orthopedics, Traumatology and Rehabilitation, 2014
McCune Albright syndrome (MAS) is a rare disorder comprising any two of polyostotic fibrous dysplasia (PFD), café-au-lait macules and endocrine abnormalities. We present the case of a 25-year-old male who suffered a pathologic fracture of his right femur
Muhammad Haseeb   +3 more
doaj   +1 more source

A rare pediatric case of McCune–Albright syndrome with acute visual disturbance

open access: gold, 2022
Hiroshi Ninomiya   +14 more
openalex   +1 more source

A non-classic form of McCune Albright syndrome with different presentations and review of the literatures

open access: yesCaspian Journal of Internal Medicine, 2021
Background: McCune Albright syndrome (MAS) is a rare heterogeneous clinical syndrome without any predilection for ethnic group.  Classic form includes triad of fibrous dysplasia, café au late spots and autonomous hyper function of one or more endocrine ...
Ali Reza Navabazam   +3 more
doaj  

The Role of gsp Mutations on the Development of Adrenal Cortical Tumors and Adrenal Hyperplasias

open access: yesFrontiers in Endocrinology, 2016
Somatic GNAS point mutations, commonly known as gsp mutations, are involved in the pathogenesis of McCune Albright syndrome and have also been described in autonomous hormone-producing tumors, such as somatotropinoma, corticotrophoma, thyroid cancer ...
Maria Candida Barisson Villares Fragoso   +3 more
doaj   +1 more source

Resistência ao hormônio tireoidiano detectada por meio da triagem neonatal [PDF]

open access: yes
We report the clinical and laboratory findings, and molecular analysis of a Brazilian patient with resistance to thyroid hormone syndrome (RTH) detected by neonatal screening. The index case was born at term by normal delivery with 2,920 g and 45 cm. TSH
MACIEL, Léa Maria Zanini   +1 more
core   +1 more source

Fibrous dysplasia of the temporal bone secondary to ear surgery: A case report [PDF]

open access: yes, 2015
Introduction: In this report, we describe the clinical course, diagnostic features and management of a patient with fibrous dysplasia of the temporal bone 7 years after middle ear surgery on the same side.
Gavilan, Javier   +5 more
core   +2 more sources

Ovarian cysts [PDF]

open access: yes, 2009
This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of ovarian ...
Colt, Ross
core   +1 more source

Fibrous dysplasia of maxilla: Report of two cases

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2015
Fibrous dysplasia (FD) is an idiopathic skeletal disorder in which the trabecular bone is replaced and distorted by poorly organized, structurally unsound fibro-osseous tissue. The lesion is classified into two forms: Monostotic (75-80%) and polyostotic.
Nisha Dua   +3 more
doaj   +1 more source

Características clínico-radiológicas orofaciais da síndrome de McCune-Albright num adulto: relato de um caso [PDF]

open access: yes
Fibrous dysplasia is a benign and progressive bone disease of genetic basis that can affect one or several bones. Its high incidence in the pediatric age served as a basis for it to be previously considered exclusive to this stage; however, there are ...
Morales Paz , Yanara Reyna   +2 more
core   +2 more sources

Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]

open access: yes, 2016
Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira   +17 more
core   +1 more source

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