This report describes the clinical features of an 11-yearold male whose genetic evaluation supports the diagnosis of diastrophic dysplasia. A professional team evaluated and treated him with regard to facial development, various physical problems, and pediatric dental management of his intraoral conditions. Cardiopulmonary function often is compromised because of kyphoscoliosis. This along with...

Chondrosarcoma is the second most frequent malignant bone tumor. However, the etiological background of chondrosarcomagenesis remains largely unknown, along with details on molecular alterations and potential therapeutic targets. Massively parallel paired-end sequencing of whole genomes of 10 primary chondrosarcomas revealed that the process of accumulation of somatic mutations is homogeneous i...

INTRODUCTION Maffucci syndrome is a rare, congenital, non-hereditary mesodermal dysplasia, manifested by multiple enchondromas and hemangiomas. Malignant transformation of these lesions is seen in up to 40% of the cases. CASE REPORT We present a case of a patient with Maffucci syndrome and an associated chondrosarcoma of the nose. Treatment consisted of surgical resection. Because of the low ...

BACKGROUND Maffucci syndrome, a congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, was first described in 1881, and 200 cases have been reported in the literature since then. Its etiology is unknown, there is no predilection for race or sex, and the development of lesions usually occurs in puberty. The risk of sarcomatous transformation is about 25%. CASE ...

Maffucci's syndrome is a rare non hereditary disorder characterized by multiple enchondromas and haemangiomas. A 12 year old boy presented with a painful swelling at his right hand and deformed left upper limb. On detailed workup, he was found to have multiple enchondromas involving long bones and a single haemangioma. A diagnosis of Maffucci's syndrome was established. The clinical features an...

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...

Tibial dyschondroplasia (TD) in poultry is a disorder of growth plate cartilage that fails to resorb and consequently prevents bone formation. Matrix metalloproteinases (MMP) contribute to the process of resorption through the degradation of extracellular matrices and facilitating vascularization, growth plate remodeling, and maturation. In order to understand the cause of the failure of cartil...

BACKGROUND Synovial osteochondromatosis is a benign metaplastic proliferative disorder of the synovium characterised by the formation of multiple cartilaginous nodules in the synovium, many of which detach and become loose bodies. The disease is characteristically monoarticular, most commonly involving the knee. A site in the elbow was first reported in 1918 by Henderson, but any joint may be i...

The aim of this study was to determine the effect of two lighting programs (continuous lighting (CL) 24L:0D and intermittent lighting (IL) 1L:3D) on the broiler performance, carcass traits, incidence of tibial dyschondroplasia (TD), relative asymmetry (RA), duration of induced tonic immobility (TI), heterophils-lymphocytes ratio (H/L), serum glucose, cholesterol and triglyceride levels. The chi...