Hereditary multiple exostosis in two Nigerian siblings
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...
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 کاملStargadt’s disease in two Nigerian siblings
Stargardt's disease is an inherited macular dystrophy that is transmitted in an autosomal recessive or dominant pattern. The disorder is typically characterized by impairment of central vision, with onset around the first 10-20 years of life. Stargardt's disease is rare in sub-Saharan Africa. This is probably the first reported case in the subregion. We present two siblings with the disease. Pr...
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...
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...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2009
ISSN: 1757-790X
DOI: 10.1136/bcr.09.2008.0901