[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family]. / Hereditäre multiple Exostosen. Molekulargenetische Analyse des EXT1-Gens in einer ungewöhnlichen Familie.

Hereditary multiple exostosis (HME), a disorder inherited in an autosomal dominant manner, is characterized by multiple projections of bone, mainly at the extremities. The risk of malignant transformation of the exostoses is estimated to be up to 2%. The most common underlying cause of the disease involves mutations in either the EXT1 or the EXT2 gene. We report on the clinical and molecular findings in a family affected with HME.A mother and her three children from different partnerships, all clinically diagnosed with HME, were referred for genetic counseling. Subsequently, molecular analysis of the EXT1 gene was performed according to standard procedures. We identified a mutation in the EXT1 gene in all four affected family members (delA in codon 133). This mutation has not been previously described and is suggested to cause the disease in this family. Identification of disease causing mutations in patients with HME and their relatives can help to improve the clinical management of tumor prevention, early tumor detection, and orthopedic therapy.

[Funicular myelosis--an unusual case of unilateral destruction of the tarsus]. / Funikuläre Myelose--ein aussergewöhnlicher Fall einseitiger Fusswurzeldestruktion.

The presentation includes an unusual destruction of the tarsus of a 64 year old patient with subacute combined degeneration of the spinal cord caused by chronical vitamin-B12-deficiency. This case report will be shown a systemical disease as a possible cause of localized bone-destruction in differentialdiagnosis.

[Calculating the progression of deformation scoliosis]. / Zur Berechnung der Progredienz von Missbildungsskoliosen.

The authors have developed a mathematical model for the future prognosis of structural scoliosis which is based on the research on 97 patients with borne structural scoliosis. In order to make this mathematical model reliable, the authors propose a multicentrical research.

[Scoliosis in infancy]. / Zur Problematik der Säuglingsskoliose.

1. The paper deals with 101 patients (52 male, 49 female) who have been treated in the first and second years of life because of resolving scoliosis and could be re-examined later at the age of 15 between 17 years. 2. The clinical and roentgenological findings of seven patients only had been normalized, where as in all other cases low lateral deviations of the spinal column (77 times), frequently at a modified type of curvature (44 times) or structural modifications (77 times, 17 spinal columns without lateral deviations), or not rarely, even both of them, had been found. 3. During development it came to a displacement of the vertex-vertebra on a average of 1-2 vertebrae to caudal. 4. No inspected resolving scoliosis had change over into a progressive scoliosis, a coherence consists not with idiopathic scoliosis of the prepuberty and puberty.

[The relative length of the radius and ulna at the wrist joint]. / Die relative Länge von Radius und Ulna am Handgelenk.

The average relative length of radius and ulna on the wrist joint was measured. The 922 examined joints (637 patients) were divided into groups corresponding to age. Up to the age of 50 the relative length of the both forearm bones is the same. Then the ulna surpasses the length of the radius a little. The maximum difference amounts to 1 mm. We support the cause in a decrease of cartilage thickness of caput radii and capitulum humeri which is greater than a simultaneous decrease of cartilage thickness in humero-ulnar joint. In senility the small difference disappears again. The standard deviation is rather considerable, it means a great individual fluctuation. Besides we have examined the elevation of processus styloideus radii et ulnae and their distance. This values were very constant.

[Surgery of genuine Perthes' disease (author's transl)]. / Zur operativen Behandlung des genuinen Morbus Perthes.

134 children between 3 and 13 years of age (average age 6.4 years) were treated at the Orthopaedic Clinic of the Karl-Marx-University at Leipzig between 1955 and 1977, for genuine Perthes' disease. The treatment consisted of bolting the capitular epiphysis (head) of the femur with a homologous bone chip. Anatomical healing was achieved in 50% of the cases. In almost 15% the results were good. The shape of the head was normal or almost normal, and there was merely a slight medium upward displacement of the trochanter without any functional significance. In 30% of the patients, the head was definitely no longer completely round, and there was a coxa vara symptomatic which, in three cases, was the reason for a surgical displacement of the trochanter. In 5--10% of the hip joints, the deformation had resulted in an incongruence of the head and acetabulum. The average treatment period was 17.1 months. The stage of the disease at the time of surgery did not exercise any influence on the duration and results of the treatment. Likewise, the position of the tip of the bone chip did not exercise any definitely appreciable influence.