46 enchondromata of the hand have been treated by simple curettage without bone grafting. 82% healed and 16% were left with only small bone defects. Only one patient had a clear-cut recurrence requiring re-operation. This simple method, performed on out-patient basis, is recommended.

Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic shortening of the limbs. Madelung deformity is a feature of DCO that is distinctive, variable in expressivity and frequently observed. Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO. Isolated Madelung deformity (IMD) without the clinical characteristics of DCO has also been described in sporadic and a few familial cases but the genetic defect underlying IMD is unknown. In this study, we have examined 28 probands with DCO and seven probands with IMD for mutations in the SHOX gene by using polymorphic CA-repeat analysis, fluorescence in situ hybridisation (FISH), Southern blotting, direct sequencing and fibre-FISH analyses. This was combined with auxological examination of the probands and their family members. Evaluation of the auxological data showed a wide intra- and interfamilial phenotype variability in DCO. Out of 28 DCO probands, 22 (79%) were shown to have mutations in the SHOX gene. Sixteen unrelated DCO families had SHOX gene deletions. Four novel DCO-associated mutations were found in different families. In two additional DCO families, the previously described nonsense mutation (Arg195Stop) was detected. We conclude that mutations in the SHOX gene are the major factor in the pathogenesis of DCO. In a female proband with severe IMD and her unaffected sister, we detected an intrachromosomal duplication of the SHOX gene.

No abstract

A retrospective analysis of the adverse reactions reported between 1979 and 1991, in the 139,000 children under six years of age vaccinated in Sweden with the Danish BCG vaccine, strain Copenhagen 1331, showed an incidence of 1.9 per 1000 vaccinated children. Regional lymphoglandular swellings and/or abscesses were most commonly reported in 1.4 per 1000. Serious, disseminated, BCG infections developed in four infants vaccinated neonatally. Three of the infants suffered from severe, combined, immunodeficiency syndrome, undiagnosed at the time of vaccination. The incidence of severe, combined, immunodeficiency syndrome was higher in the BCG-vaccinated population (4 per 100,000 infants vaccinated within a year of their births), compared with all newborns in Sweden (1 per 100,000). The mean age at the onset of symptoms was 2.4 months for the seven non-BCG-vaccinated infants versus 1.3 months for the four BCG-vaccinated ones, while the immunodeficiency syndrome was diagnosed at an average age of 7.6 months in those who were not vaccinated versus 5.3 months in those BCG-vaccinated. It is recommended that the selective BCG vaccination of infants at high risk of exposure to tuberculosis should be postponed to six months of age to reduce the risk of inoculating infants suffering from immunodeficiency syndromes.

The ability of ultrasound to assess a displaced ulnar collateral ligament of the 1st metacarpo-phalangeal (MCl") joint was evaluated. If the ligament is ruptured and displaced proximal to the adductor aponeurosis, a surgical repair should be undertaken to restore stability. Ultrasound accurately diagnosed these lesions in 32/39 operated patients. In 4 cases the ultrasound examination suggested a more severe lesion than was found at operation. In 3 cases a lesser injury was suspected than later proved to be present.