Genetical and clinical aspects of campomelic dysplasia.
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Biomedical subjects
Publications and source records attributed to G Beluffi.
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A case of perinatal lethal dwarfism is described: owing to its clinical, radiological and histologic features the case can be classified as SRP syndrome type III (Verma-Naumoff). On the basis of the radiological features and--particularly--of those of the growing cartilage, stress is laid on the importance of these studies for a proper classification of such rate and not completely known chondrodysplastic dwarfisms.
The os incae derives from a fusion's failure of the cartilagineous and membranous portions of the occipital bone. It may represent with different features which - sometimes - are misinterpreted as traumatic in origin. The present report is based on the revision of 3697 skull examinations performed during the years 1976-1979 in the Department of Radiology of the Pediatric Clinics and Institute of Child Health of the University of Milan on a random children population. The percentage, frequency and morphological aspects of the os incae are considered.
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The writers present the case of a small girl affected by Larsen's syndrome. Her brother had the same syndrome. Surgical reduction of the dislocated knees was performed at the age of two months, followed by immobilisation in a spica plaster. At operation it was found that both patellae, which are cartilaginous at that age, were absent. On the basis of recent literature and the heterogeneous manifestations of the syndrome, the authors discuss the pathogenetic theories, the differential diagnosis, and the current therapeutic possibilities.
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The Authors report about a case of colonic atresia localized on the transverse colon a few cms after the right flexure curd by one time resection and end-to-end anastomosis. The pathology of the lesion is atypical since features of Bland-Sutton and Louw's classification types II and III were mixed together at the atresia site while the radiological features were those typical of type II.
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Three cases of the rare camptomelic syndrome are presented observed within fourteen months at the Mangiagalli University Clinic, Milan. The radiographic appearances and clinical characteristics are described, and compared with the thirty five cases in the literature. The differential diagnosis is discussed and the possibility of diagnosing this malformation prenatally is suggested.
Achondrogenesis is a rare form of lethal dwarfism. Usually discovered post partum, in a few instances only it has been diagnosed in utero. One such a case is here presented together with differential diagnosis with other forms of lethal dwarfism.
The Authors report their experience in the field of transcistic peroperating colangiography performed by the use of polythene cannulae and discuss the advantages of this procedure based on the results of more than 350 cases. The simplicity of the procedure, its quick employment and-most of all-its harmlessness in comparison to other techniques is underlined.
The Authors report a new case of anomalous origin of the left coronary artery from the pulmonary artery in a 3 and a half month old boy. Its clinical and angiographic findings are described. A new method of surgical repair (end-to-end anastomosis between left coronary artery and a collateral of subclavian artery) is presented.
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