Background and methods: Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity in children, with a prevalence of 1–2%. The disease generally displays complex inheritance. Various family studies have produced many first reports of AIS susceptibility regions, but confirmation of these is lacking. In the present study we investigated extension of our own data, and reproducibility of other published results, by testing linkage in a new collection of fifty-four AIS families. Altogether fifteen candidate regions were evaluated in a two-stage design.

Results: Strongest results were obtained for linkage to microsatellite loci within a candidate region of proximal 8q previously identified by chromosomal breakpoint mapping. Although positive lod scores were obtained for other regions, none exhibited significance less than or equal to P = .05. Lod scores remained stable after analysis of an independent panel of SNP loci in the 8q candidate region and were strengthened with inclusion of additional affected family members (multipoint NPL = 3.02, P = 0.001). Two SNPs near the peak of linkage produced evidence of association to AIS susceptibility. Both SNPs are found within plausible candidate genes for AIS susceptibility.

Conclusion: These results support linkage of the 8q11-8q13 region to AIS susceptibility. Bashiardes et al. previously described a chromosomal break in the 8q11 region that disrupted the gamma-1- syntrophin (SNTG1) gene and segregated with AIS in an extended kindred. In that study, possible rare splice site mutations were identified an additional affected family and one sporadic case. The peak of linkage and association detected in this study appears to be distinct from the SNTG1 gene. This suggests the possibility that more than one gene in the region may contribute to disease. A more detailed analysis of the region encompassing this linkage peak, and the SNTG1 gene, is warranted in larger family collections.

The clinical features, management and outcome of 178 early bleeding episodes into the musculature of the thigh and lower limb of 37 severe haemophiliacs are reported. Ninety-five per cent of all bleeds were treated in under three hours from onset of symptoms and the mean time to complete restoration of function was 3.5 days. The most frequent site of bleeding was the quadriceps (44 per cent) followed by the calf (35 per cent), anterior tibial compartment (seven per cent), adductors of the thigh (seven per cent), hamstrings (six per cent) and sartorius (one per cent). Bleeds of the quadriceps took longest to resolve (mean, four days), significantly longer than bleeds of the calf muscle (3.1 days). The first symptom in 66 per cent of bleeds was pain on movement. When the quadriceps was involved, this rapidly progressed to pain at rest. There was a significant prolongation of recovery time when bleeds of this muscle group were treated more than two hours after the onset of symptoms. Bleeds of the calf muscle required less transfusions and no prolongation in recovery time occurred in bleeds treated up to three hours from the onset of symptoms. The results of this study contrast markedly with earlier reports based on later presentations.

Thirty hips affected by congenital dislocation or subluxation underwent surgical treatment between the ages of five and fifteen years, and the results are presented. Reduction was aided by concurrent femoral shortening in seventeen. An aggressive approach in older children not only relieves the presenting symptoms in most, but also, by improving the anatomical relationships, increases the prospect of success should total replacement become indicated in the future.

Congenital metatarsus varus is a common deformity that usually responds to conservative treatment. In fifteen feet operated on for resistant deformity, an anomalous insertion of the tibialis posterior tendon was found in fourteen. Six cadaveric infant feet were dissected to confirm the normal insertion. The dynamic component of the deformity is stressed.