PTHR1-signaling pathway is critical for the regulation of endochondral ossification. Thus, abnormalities in genes belonging to this pathway could potentially participate in the pathogenesis of Ollier disease/Maffucci syndrome, two developmental disorders defined by the presence of multiple enchondromas. In agreement, a functionally deleterious mutation in PTHR1 (p.R150C) was identified in encho...

Enzymes of the matrix metalloproteinase (MMP) family regulate angiogenesis and are involved in the endochondral ossification process. Tibial dyschondroplasia (TD) and rickets are 2 disorders associated with impairments in this process, mainly in the vascularization of the avian growth plate. In this paper, we induced TD and rickets and studied the expression patterns of 4 members of the MMP fam...

Maffucci's syndrome is a rare congenital condition, sometimes misdiagnosed as Ollier's disease, characterized by multiple enchondromas combined with hemangiomas and phlebectasia. Coexisting primary malignancies have been described sporadically. We report two cases of Maffucci's syndrome associated with cranial base chondrosarcoma, emphasizing pathophysiological features and the challenging mana...

INTRODUCTION A girl presented with achondroplasia manifested as mild knee pain associated with stiffness of her back. A skeletal survey showed enchondroma-like metaphyseal dysplasia and ossification of the spinal ligaments. Magnetic resonance imaging of the spine further clarified the pathological composites. CASE PRESENTATION A 7-year-old girl presented with the classical phenotypic features...

We describe a rare synovial mass arising from the elbow of a 2-year old female. It was growing slowly for three months and there was no history of trauma or fever. Plain radiographs showed a soft tissue mass around the elbow with scattered nodular intraarticular calcifications. Ultrasound and MRI confirmed the synovial location of the mass and again showed the multiple calcifications, some of w...

The Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) in Saint Petersburg is the oldest museum in Russia. It keeps the remains of the anatomical collection of the world-famous 17th century Dutch anatomist Frederik Ruysch. This unique collection was bought and shipped in 1717 by Czar Peter the Great, and presently still comprises more than 900 specimens, a modest number of whi...

Modern fast-growing broilers spend excessive periods resting and their activity further decreases with age. Inactivity has been suggested to increase impaired gait and the incidence of leg disorders. Tibial dyschondroplasia (TD) is a common leg pathology in broilers. A more complex environment might facilitate more activity and improve leg health. Perches or elevated platforms bring variety to ...

1Department of Orthopaedics and Traumatology / Comprehensive Cancer Centre Freiburg, University Medical Centre Freiburg, Freiburg i. Br., Germany; 2Department of Orthopaedics and Traumatology, University Medical Centre Freiburg, Freiburg i. Br., Germany; 3Clinic for Radiology and Nuclear Medicine, Department for Nuclear Medicine , University Hospitaol Basle, Basle, Switzerland; 4Children’s Hosp...

Fibrous dysplasia can be monostotic or, less commonly, polyostotic. The imaging features of polyostotic fibrous dysplasia may closely mimic those of metastatic bone disease, Paget disease, or enchondromatosis (Ollier disease). We present a unique case of polyostotic fibrous dysplasia in a 57-year-old female with a medical history of enchondromas involving the proximal phalanges of the left hand...

Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in "Nosology and Classification of genetic skeletal disorders (2010 version)" using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been repo...