Although those of us (and particularly orthopaedists and rheumatologists) who deal with locomotor diseases in man are concerned mainly with stiffness and limitation of movement affecting not only livelihood but also the quality of life-from time to time we see patients suffering from too much of a good thing, whose joints are too freely mobile for the good of the whole man. In most instances, at least in youth, the benefit outweighs the debit. Many hypermobile people in the performing world ballet dancers, circus gymnasts, musicians and sportsmen and women-have delighted audiences over 20 centuries with their unusual ability, prowess and postures. Some types of acquired hypermobility can, however, be disadvantageous, an example being tabes dorsalis with its flaccid joints and perhaps pain as well. In a similar way the restored-to-normal mobility of treated rheumatoid patients (whether by prednisone or longer term drugs such as penicillamine or gold) must be considered abnormal-as hypermobility for that patient which in the long term may hasten secondary arthrotic changes. This treatise deals, however, with the abnormally mobile, either as an effect of inherited connective tissue abnormality or as one end of the normal range of mobility, without any obvious connective tissue change. It comes at a fecund time in our knowledge of the intricacies of the collagen molecule, with intriguing questions concerning the development of local type specific structures. The fibroblast may yet expand to the same diversity as the once humble lymphocyte.
The skeleton is involved to a significant extent in more than 500 genetic and congenital syndromes and although the majority of these are individually rare, collectively they are not uncommon. Diagnostic precision, which is crucial for accurate prognostica tion and effective management, is frequently dependent upon recognition of radiological stigmata. For this reason the radiologist plays a key role in the appraisal and investigation of persons with disorders of this type. With these points in mind we have written this handbook for use in the radiographic reporting room. We have endeavored to provide the essential information which will facilitate radiodiagnosis and have striven for clarity and accuracy. We believe that our objective will be achieved by means of the 'gamut' format which we have employed. In Section 1 we have addressed the problem of diagnosis of generalized skeletal abnormalities, while Section 2 is based upon an anatomical or regional approach. Lists of conditions are given in order of prevalence or importance. Our gamut has been deliberately simplified and only the most important and easily recognized radiographic stigmata have been taken into account. Pertinent clinical, radiographic, and genetic information for each syndromic entity is provided in Section 3, where the disorders are placed in alphabetical order. This section also contains relevant references which are as up to date as possible.
The tremendous expansion of medical knowledge during the last few decades, together with the introduction of many new diagnostic techniques, has demanded such a degree of specialisation that no single individual can be conversant with all the information available. More and more emphasis, therefore, has been placed on the importance of teamwork and close collaboration between associated disciplines. The bone dysplasias of infancy represent a classical example of this concept. Only a few years ago these heritable conditions were divided into a relatively small number of entities, for many of which "atypical variants" were accepted. More recent studies have resulted in appreciation and early recognition of a large number of these disorders, thanks to co-operation between paediatricians, radiologists, geneticists and biochemists. Not only maya reasonably accurate prognosis be offered for the affected child in many instances, but, almost of greater value, genetic counselling concerning the chance of subsequent offspring being similarly affected has become available to parents. Most radiologists have little opportunity of becoming familiar with this rapidly widening field of diagnosis, so that the occasional case which may be encountered is likely to engender diagnostic difficulty. This Atlas should facilitate greatly the solution of the problem. It has been prepared by Professor CREMIN, an outstanding paediatric radiologist whose work has been known and admired by me for many years, in close collaboration with his colleague Professor BEIGHTON, a geneticist of great distinction.
Much confusion exists in the accurate identification and classification of the many disorders in infancy which affect the skeleton by producing sclerosing lesions throughout the entire skeleton or in selected areas. A scholarly effort to bring order into this confusing field must be welcomed. Professors Beighton and Cremin have skillfully defined the problem and concisely yet thoroughly have identified the various sclerosing dysplasias. They bring to this task a wealth of clinical experience in their many years in the Departments of Radiology at the University of Cape Town Medical School and the Groote Schuur and Red Cross Children's Hospitals in Cape Town, South Africa. The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry. Professors Beighton and Cremin have used as a basis for their treatise the Paris Nomenclature (the modified version of 1977). This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities adopted from the Paris classification. Other disorders which present with osteosclerosis are also described. These include Caffey disease, oculodento-osseous dysplasia, central osteosclerosis with bamboo hair, fluorosis, osteosclerosis associated with renal disease and mastocytosis.
Inherited skeletal disorders have a fascination for many medical and surgical disciplines. For the geneticist there is interest in the study of families and their inheritance of lesions. The paediatrician is concerned because most of the disorders present in childhood as a problem in clinical differential diagnosis. The radiologist is interested because of the manifest, multiple and curious bone changes that provide a challenge in diagnosis and classification. The orthopaedic surgeon is involved because they present a challenge in the management of the many and various lesions of the limbs and trunk. Most of the text books are slanted towards one or other aspect of the subject, depending upon the specialist interests of their author. Though informative to colleagues in their own discipline, the information which they contain is liable to be overwhelming in its complexity or unhelpful in its content for the orthopaedic surgeon or trainee. Frank Horan and Peter Beighton have aimed their admirable and concise monograph to help the orthopaedic surgeon-the one individual who is likely to be able to ameliorate the musculo-skeletal problems from which so many of the children and adults with these diseases suffer. In recent years, much more orthopaedic help has become available for dysplastics.
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