منابع مشابه
Hereditary multiple exostosis.
Hereditary multiple exostosis is an intriguing genetic condition with a clinical impact in the field of orthopaedics, paediatrics and oncology. In this review we highlight the current knowledge about this condition from a clinical and scientific point of view. This gives us more insight into the molecular mechanisms and current models on which therapeutic agents are based. It allows for a multi...
متن کاملThe Genetics of Hereditary Multiple Exostosis (HME)
Introduction Hereditary multiple exostosis (HME) is a skeletal disorder characterized by the presence of numerous bony outgrowths (osteochondromas or exostoses) that develop next to the growth plates of all the long bones (Solomon 1963). The most striking clinical feature of HME is the numerous cartilage-capped exostoses, which are associated with the entire skeleton. Skeletal surveys suggest t...
متن کاملPeriodic hypersomnia, congenital ectodermal disorders and multiple exostosis.
A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) exces...
متن کاملMultiple hereditary exostosis, EXT genes, and skeletal development.
Multiple hereditary exostosis, EXT genes, and skeletal development.
متن کاملSpinal Exostosis in a Boy with Multiple Hereditary Exostoses
We report on a 13-year-old boy who presented with multiple hereditary exostosis and had development of back pain, associated with neurological deficits, and was found to have exostoses in the spinal canal. Spine radiograph showed a cauliflower-like abnormality of multiple exostoses of the posterior arch (pedicle) of the thoracic vertebrae (T3-5). Reformatted CT scanning revealed the simultaneou...
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ژورنال
عنوان ژورنال: Journal of Rare Diseases Research & Treatment
سال: 2019
ISSN: 2572-9411
DOI: 10.29245/2572-9411/2019/2.1182