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Craniometaphyseal dysplasia: case report.

Craniometaphyseal dysplasia is a rare genetic bone remodeling disorder characterized by undertubulation of the long bones, especially in the lower extremities, causing deformities of the metaphyses of the long bones, and sclerosis of the skull base or cranial bone hyperostosis. The authors report a case of craniometaphyseal dysplasia in an 8-year-old Brazilian child, emphasizing the importance of precocious diagnosis of this rare genetic disorder.

Bone Diseases, Developmental↗

[Osteopecilia].

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Adult↗

Radiology of the autosomal dominant form of craniometaphyseal dysplasia.

The autosomal dominant variety of craniometaphyseal dysplasia was diagnosed in 8 members of three generations of a White family living in the Cape Province and in Natal. Radiographic investigations of these individuals permitted assessment of the spectrum of involvement and of the age relationship of the abnormalities. Characteristic radiographic features included cranial hyperostosis and sclerosis, in association with metaphyseal splaying. Diagnostic precision in this order permits accurate prognostication and rational genetic counseling.

Adolescent↗

[Is gonarthrosis with varus deformity a clinical entity].

Studies were conducted in a group of patients with varose deformity. The present paper gives the results of indicidual bone metabolism studies conducted on 663 healthy controls and patients with articular disease without genu varum or with varose deformity. In subjects with genu varum intravenous administration of calcium causes the urinary elimination of hydroxyproline and nitrogen to fall. Among the groups under investigation this group of patients excretes the least amount of urine, has a relatively low calciuria and shows the highest retention rate of intravenously administered calcium. Patients with gonarthrosis associated to varose deformity excrete, a day after intravenous administration of calcium, the relatively least amounts of phosphorus, as compared to the healthy controls and other degenerative joint diseases without genu varum. Although the retention of intravenous calcium in the studied group resembles that seen in the process of generalized osteomalacia, no coinciding signs of osteomalacia c ould be found in subjects with gonarthrosis and varose deformity. X-ray examination of patients with genu varum revealed more marked changes in the bone structure, namely sclerosis, necrosis and osteophytes of shapes and sizes other than in gonarthrosis without varose deformity. Epidemiological analysis of 30 patients showed 83.3% of patients to have overweight type I to III according to the Broca formula. Pains in the knee joints started appearing at the mean age of 50 years. A large part of the patients showed the presence of serious varicose syndrome and relapsing phlebitis of the lower limbs. Although the clinical and X-ray pictures make it possible to conisder a larger amount of disease types, we assume that gonarthrosis with varose deformity may be regarded as an isolated clinical entity which refers primarily to a localized bone process.

Aged↗

[The results of Chiari's medial displacement osteotomy].

Results of follow-up investigations on 45 patients with hip operated between 1968 and 1973 after the method of Chiari are reported by the authors. The post-operative development of the C.E. angle (Wiberg) and of the acetabular inclination angle (v. Lanz) are discussed. Attention is drawn to the necessity of X-ray films taken in a second projection (Fauxprofil view). With the aid of arthrography of the hip joint it is demonstrated that the most important demands of acetabulum formation surgery, namely the antomical congruence of the joint components, can be achieved by means of pelvic osteotomy after the method of Chiari.

Adolescent↗

[An X-ray approach to differentiate benign and malignant bone tumors (author's transl)].

A critical analysis of X-ray signs induced by the interaction of a bone tumor with bone itself is presented. These enables the physician to recognise a pattern of characteristic findings for each particular tumor. Clinical examples are demonstrated illustrating at the same time a schematic classification of those signs on a roentgenogramm which in many cases facilitate the prediction of the specific diagnosis and in consequence the prognosis of the lesion. The need for an effective cooperation between the involved specialties is stressed.

Adolescent↗

[Pyknodysostosis].

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Craniosynostoses↗

[Sclerosteosis].

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Abnormalities, Multiple↗

[Severe pulmonary involvement in Erdheim-Chester disease (case report)].

Presented is a typical case of Erdheim-Chester disease (ECD) wherein the severe pulmonary manifestation led to an open lung biopsy and eventual morphologic recognition of the nonspecific clinical symptoms. The pulmonary involvement is described in almost 20% of cases and is prognostically unfavourable. About 20 cases of Erdheim-Chester disease were published and more than half of them had lethal outcome. The ECD affecting seriously lungs appears as non-specific interstitial lung disease and usually does not enter the broad clinical differential diagnosis. A detailed bibliography with special attention to the pulmonary involvement by this enigmatic disease is presented.

Diagnosis, Differential↗

[Osteopoikilia with dermofibrosis lenticularis disseminata (Buschke-Ollendorf syndrome) (author's transl)].

In a family, we have observed through 3 generations a Buschke-Ollendorf syndrome. All 12 children and grandchildren, descendants from actually 59 year old grandmother were examined. 8 probands had a osteopoikilia, 5 of them as the grandmother had a dermatofibrosis lentcularis disseminata. The Buschke-Ollendorf syndrome is not really a syndrome in his strong sense, rather a variant of osteopoikilia with participation of skin.

Adolescent↗