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PubMed1990

[Metabolic diseases of bones. Catamnestic study of the incidence and kind of problems in surgical treatment].

By a catamnestic study at Orthopedic Department of Homburg/Saar University Clinic 156 courses of variant constitutional diseases of bone (1965-1986) were recorded. The frequencies of primary spontaneous fractures, fracture healing-disturbances, refractures and pseudarthroses after operative management of bone lesions or correction-osteotomies were of special interest. While there was no increased rate of traumatic or spontaneous lesions or prolongated healing-rate in case of Rickets and M. Ollier, those complications with need of osteosynthetic measures were more often due to M. Paget and M. Jaffé-Lichtenstein. As expected, osteogenesis imperfecta represented the highest rate of osseous lesions; an uneven situation was found among multiple/generalized epi- and metaphyseal dysplasias.

Adolescent↗
PubMed1991

Inherited diseases of bone density in children.

In this article the radiographic manifestations of various genetic diseases predominately affecting bone mineralization are considered. Osteogenesis imperfecta and other diseases of diffuse osteopenia, hereditary rickets and rachiticlike conditions, and osteopetrosis and other diseases of increased bone density are emphasized. Recognition of the radiographic manifestations allows accurate diagnosis, therapeutic intervention when possible, and determination of recurrence risk for genetic counseling.

Bone Density↗
PubMed1990

Heritable metabolic and dysplastic bone diseases.

Endocrinologists may be challenged not only by the great diversity of rare heritable metabolic bone diseases, but also by an unusual array of genetically transmitted skeletal dysplasias. The striking impact that many such skeletal dysplasias have on bone leads physicians naturally to question whether there is a metabolic component that might respond to mineral or hormonal therapy. Indeed, overt derangements in mineral or hormonal therapy. Indeed, overt derangements in mineral homeostasis occur, and a few do respond to medical treatment. Accordingly, some skeletal dysplasias do "bridge the gap" with the disorders that are traditionally regarded as metabolic in origin. The skills of the endocrinologist may be called on for either group of patients.

Adolescent↗
PubMed1988

Disturbances of bone growth and development.

"What is growth anyway? Can one talk about positive growth in childhood, neutral growth in maturity, and negative growth in old age?" Our goal is to help promote normal positive growth in infants and children. To achieve this, we must be cognizant of the morphologic changes of both normal and abnormal bone formation as they are reflected in the radiographic image of the skeleton. The knowledge of the various causes and the pathophysiologic mechanisms of the disturbances of bone growth and development allows us to recognize the early radiographic manifestations. Endocrine and metabolic disorders affect the whole skeleton, but the early changes are best seen in the distal ends of the femurs, where growth rate is most rapid. In skeletal infections and in some vascular injuries two-or three-phase bone scintigraphy supercedes radiography early in the course of the disease. MRI has proved to be very helpful in the early detection of avascular bone necrosis, osteomyelitis, and tumor. Some benign bone tumors and many bone dysplasias have distinct and diagnostic radiographic findings that may preclude further studies. In constitutional diseases of bone, including chromosomal aberrations, skeletal surveys of the patient and all family members together with biochemical and cytogenetic studies are essential for both diagnosis and genetic counseling. Our role is to perform the least invasive and most informative diagnostic imaging modalities that corroborate the biochemical and histologic findings to establish the definitive diagnosis. Unrecognized, misdiagnosed, or improperly treated disturbance of bone growth can result in permanent deformity usually associated with disability.

Bone Diseases, Developmental↗
PubMed1987

The normal and abnormal growth plate.

Skeletal growth is a dynamic process. A knowledge of the structure and function of the normal growth plate is essential in order to understand the pathophysiology of abnormal skeletal growth in various diseases. In this well-illustrated article, the authors provide a radiographic classification of abnormal growth plates and discuss mechanisms that lead to growth plate abnormalities.

Bone Diseases↗
PubMed1985

International nomenclature of constitutional diseases of bone. Revision 1983.

The international nomenclature of Constitutional Diseases of Bone agreed on in 1977 was revised in 1983 by a Committee of experts. Some new entities were introduced and others excluded. The basis of selection was that the disorder was a definite entity confirmed by several different observers. The subdivisions proposed are not intended as a classification but are presented to add some clarity and to facilitate research in a field which is often confused by the use of different names by different authors for the same disorder. In the congenital malformation syndromes the only ones included are those in which the osseous signs are particularly characteristic and constitute an important element in their recognition. In the growth problems of the long bones and spine a new classification is proposed to include the dysplasias incompatible with life. There are some entities in which biochemical definition seems imminent (e.g. osteogenesis imperfecta) so that a subdivision is not proposed at the present time. In the metabolic abnormalities, classification is also limited by our present knowledge and is therefore restricted to those in which a specific primary disorder has been defined and is responsible for major skeletal changes. The mode of transmission, if wellfounded, has also been noted with each disorder.

Bone Diseases↗
PubMed1995

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

We describe a de novo apparently balanced reciprocal translocation t(6;12)(q16.2; q21.2) in an 18 month old girl with Shwachman syndrome, characterised by exocrine pancreatic insufficiency and bone marrow dysfunction. The cause of this syndrome is unknown, although autosomal recessive inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions for a gene responsible for Shwachman syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

A case of membranous lipodystrophy with skeletal involvement.

It is the purpose of this study to describe the orthopaedic features of Nasu disease or membranous lipodystrophy based on the observation of a rare clinical case of the pathology and on a review of the international literature. The case described is probably the first to have been observed in Italy, and may be added to the 80 cases currently known to exist the world over. The disease affects young adults and involves pathologic fractures, as well as psychological and neurological disorders. It is currently of unknown etiology and its course is progressive until the death of the subject. The radiological aspect shows metaepiphyseal polycystic lesions of the long bones, with a tendency to expand, and involvement of the cortex. Causal treatment of the disease is currently not possible. The authors emphasize that differential diagnosis involving other diseases having a similar anatomopathological picture may be obtained, and they propose several suggestions for orthopaedic treatment based on their own experience.

Adult↗
PubMed1998

Nutrition and osteochondrosis.

Developmental orthopedic disease is a group of musculoskeletal disorders that occur in growing animals (most commonly fast growing, large breed dogs). Osteochondritis dissecans and canine hip dysplasia are the overwhelming majority of the diagnoses in those musculoskeletal problems with a possible nutritional-related etiology. Nutritional management alone will not completely control osteochondrosis or any of the developmental bone diseases. However, osteochondrosis and other developmental orthopedic diseases can be influenced during growth by feeding technique and nutrient profile. Dietary deficiencies are of minimal concern in this age of commercial foods specifically prepared for young, growing dogs. The potential for harm is in overnutrition from excess consumption and over supplementation.

Animal Nutritional Physiological Phenomena↗