Brachymetacarpia and Brachymetatarsia in Patients with Multiple Hereditary Exostosis
نویسندگان
چکیده
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...
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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...
متن کاملBursa formation with scapular osteochondroma in hereditary multiple exostosis.
Osteochondroma is the most common benign bone tumour present multiple hereditary exostosis (HME). Scapular osteochondroma associated with pain and bursitis is rarely reported in literature. Here, we describe a 49-year-old male with the diagnosis of HME who was admitted to the Department of Thoracic Surgery with a painful and rapidly enlarging mass behind the left scapula. Computed tomography an...
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 کاملIdentification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing
Hereditary multiple exostosis (HME) is an autosomal inherited skeletal disease whose etiology is not fully understood. To further understand the genetic spectrum of the disease, we analyzed a five-generation Chinese family with HME that have observable inheritance. Exome sequencing was performed on three HME individuals and three unaffected individuals from the family. A downstream study confir...
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ژورنال
عنوان ژورنال: Clinics in Orthopedic Surgery
سال: 2020
ISSN: 2005-291X,2005-4408
DOI: 10.4055/cios19121