A 20-year-old man with multiple hereditary exostoses presented with a pulsatile swelling in the posterior-medial distal thigh. He gave a history that 5 weeks previously, after squatting down then standing, he experienced a sharp pain behind his right knee. Magnetic resonance (MR) imaging demonstrated a large haematoma associated with the popliteal artery. Ultrasound imaging visualized a 9-cm po...

1. Ataxia Telangiectasia (includes Ataxia Telangiectasia 12 Complementation Groups A, C, D, E, Louis–Barr Syndrome) 2. Basal Cell Nevus Syndrome, Nevoid Basal Cell 18 Carcinoma Syndrome, or Gorlin Syndrome 3. Beckwith–Wiedemann Syndrome 19 (Exomphalos–Macroglossia–Gigantism Syndrome) 4. Birt–Hogg–Dubé Syndrome 20 5. Bloom Syndrome 21 6. Breast/Ovarian Cancer, Hereditary (BRCA1) 22 7. Breast/Ova...

Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2. HME is characterized by formation of cartilaginous outgrowths-called osteochondromas- next to the growth plates of many axial and appendicular skeletal elements. Surprisingly, it is not known whether such tumors a...

Hereditary multiple osteochondroma (HMO) is an autosomal dominant genetic disorder characterized by multiple outgrowing bony tumors capped by cartilage, generally affecting the metaphyses. The disease is known as hereditary multiple exostoses, familial exostosis, multiple cartilaginous exostoses or hereditary malformation of cartilage. The prevalence of HMO in Europe and the Unites States is ~1...

coexisting ankylosing spondylitis and hereditary multiple exostoses have rarely been reported (three patients) previously. a 27-year-old man with hereditary multiple exostoses is presented as a fourth report. at the age of 15 years, the patient had multiple exostoses around the knee, ankle and shoulder joints. he was diagnosed with ankylosing spondylitis 3 years ago. the patient’s sister and hi...

Following median and ulnar nerves, peroneal nerve entrapment is the most frequent nerve involvement in the body Katirji and Wilbourn (1998) [1]. Osteochondromas are the most common benign bone tumors comprising 9% of all bone tumors and 35% of benign bone tumors Porter (2000) [2]. Hereditary exostoses (HME) is an autosomal dominant disorder with variable penetrance characterized by multiple ost...

PURPOSE To assess the radiographic features of 36 hips with hereditary multiple exostoses (HME). METHODS Hip parameters of 12 males and 6 females (36 hips) aged 2 to 28 years with HME were assessed using anteroposterior radiographs. The recorded features included the sites of osteochondromas, the femoral head/neck ratio, the Reimer's migration percentage, Sharp's acetabular angle, the centre ...