| Identification of a skeletal dysplasia or malformation syndrome appears overwhelming and difficult, because there are so many syndromes and dysplasias to remember. However, an accurate diagnosis is essential to determine the prognosis and to guide appropriate genetic counseling. In part I, we suggest an easy and systematic analysis system to the radiological evaluation of skeletal syndromes.; The second part is focused on sclerosing bone dysplasias. Two specific sclerosing bone dysplasias were studied, van Buchem disease and Camurati-Engelmann disease (CED). Based on a retrospective study of the radioclinical features in 13 van Buchem patients, we conclude that the radioclinical abnormalities of van Buchem patients become more prominent in older patients, which suggests that the van Buchem gene is very actively involved in bone metabolism throughout life and that the physiological function of the van Buchem gene is to inhibit bone formation and to regulate bone remodeling. We also studied retrospectively clinical features and imaging studies in a large Jewish-Iraqi family with CED. The following conclusions can be drawn from this study. First, that radiological examination is more sensitive than clinical symptomatology. Secondly, radioclinical abnormalities are mostly detected before the age of 30, and the disease is usually progressive throughout life. Thirdly, the cortical thickening is due to a combination of an excessive periosteal bone apposition and a failure in endosteal resorption.; In the third part, the natural lifetime evolution and the imaging features of the hereditary multiple exostosis syndrome (HME) is discussed. Exostoses are preferentially located at the lower extremity, humerus, and forearm, whereas remodeling defect was usually seen in the hip, distal femur. The radiological manifestations start at the age of 4 to 5 years. In normal circumstances, only slow progression may be noted after closure of the growth plates. Reported complications in these families consist of local entrapment phenomenons (vessel, tendon, nerve), frictional bursitis, and sarcomatous transformation. Complications are best detected by MRI.; Finally, the additional role of magnetic resonance imaging (MRI) in the evaluation of heritable skeletal malformations is discussed. MRI has an additional role in the diagnosis, determination of disease extent, demonstration of associated abnormalities in other organ systems and assistance with therapeutic planning, disease monitoring and prognosis. |
