The Accessory muscles of the Axilla.

The axilla is a region of clinical and surgical importance with plenty of anatomical variations. One of these is the presence of accessory muscles. The literature was reviewed in order to identify the different supernumerary muscles that are described in the axilla. Variant muscle slips arising from the pectoral muscle or latissimus dorsi muscle have been described. There still remains controversy regarding the phylogenetic origin of these different muscles. We described the most frequently reported muscles, their origin, and course. Further research is required regarding the innervation and influence on glenohumeral and scapulothoracic kinematics.

Myositis ossificans circumscripta of the triceps due to overuse in a female swimmer.

Myositis ossificans is a rare condition characterized by non-neoplastic heterotopic bone formation in soft tissue and skeletal muscle. It is a benign and often self-limiting disease with no need for surgery. Here, we describe a young female swimmer with myositis ossificans circumscripta of the triceps due to overuse. Because of the benign character of the lesion, conservative treatment was initiated with rest and anti-inflammatory drugs. She obtained complete resolution after 6 months and was able to return to normal sporting activities. Myositis ossificans circumscripta is a rare benign lesion with an excellent prognosis. Most lesions in athletes occur due to contusions or strains; however, overuse is now described as well. Spontaneous resolution is seen in almost all cases. Cases in which, despite conservative treatment, a painful mass persists, surgical excision can be considered.

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

BACKGROUND: The 10q24 chromosomal region has previously been implicated in split hand foot malformation (SHFM). SHFM3 was mapped to a large interval on chromosome 10q. The corresponding dactylaplasia mouse model was linked to the syntenic locus on chromosome 19. It was shown that the two existing Dac alleles result from MusD-insertions upstream of or within Dactylin (Fbxw4). However, all efforts to find the underlying cause for the human SHFM3 have failed on the analysis of all the genes within the linkage region. Intriguingly a submicroscopic duplication within the critical locus on chromosome 10q24 was associated with the phenotype. METHODS AND RESULTS: As a part of screening for genomic rearrangements in cases with unexplained syndromic limb defects, a cohort of patients was analysed by array comparative genomic hybridisation (CGH). A 10q24 microduplication was detected in two individuals with distal limb deficiencies associated with micrognathia, hearing problems and renal hypoplasia. In addition, in a family with two affected siblings, a somatic/gonadal mosaicism for the microduplication was detected in the apparently healthy mother. Using a high resolution oligoarray further delineation of the duplication size was performed. CONCLUSIONS: The detected 10q24 genomic imbalance in our syndromic patients has a similar size to the duplication in the previously reported individuals with an isolated form of SHFM, thus extending the clinical spectrum of SHFM3. These findings clearly demonstrate the importance of array CGH in the detection of the aetiology of complex, clinically heterogeneous entities.

Scapular winging: an unusual complication of bracing in idiopathic scoliosis.

We describe a 15-year-old girl who had winging of the right scapula develop after incorrect use of a thoracolumbar orthosis. The girl was treated for idiopathic scoliosis, but after 2 years of bracing, progressive scapular winging and diminished range of motion in the right shoulder was observed. The girl reported that the superior part of the brace frequently hooked under the tip of the right scapula. This resulted in complete neuropathy of the dorsal scapular nerve. When using a thoracolumbar orthosis in the treatment of children with scoliosis, physicians must consider potential compressive injuries to the dorsal scapular nerve.

Responsiveness of the Dutch version of the DASH as an outcome measure for carpal tunnel syndrome.

A cohort of 119 patients with carpal tunnel syndrome completed the questionnaire of the Dutch version of the DASH score pre-operatively and one year postoperatively. The mean DASH score decreased from 38.2 to 22.0. There was a significant correlation with the Boston carpal tunnel outcome score (r=0.78). With an effect size of 0.87 and a standardized mean response of 0.69, the Dutch version of the DASH is highly responsive for the evaluation of the outcome of surgery for carpal tunnel syndrome.

Heterotopic ossification of the supraspinatus tendon after rotator cuff repair: case report.

Heterotopic ossifications of the shoulder are uncommon. Rarely, these ossifications are seen after open or even arthroscopic shoulder surgical procedures. Here, we report a patient who underwent a rotator cuff repair, complicated with an axillary nerve paralysis. Postoperatively he developed substantial ossification of the supraspinatus tendon. A review of the literature was done. To our knowledge no other cases similar to this have been reported.

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse.

Heterotaxia is an aetiologically heterogeneous condition caused by an abnormal left-right axis formation, resulting in reversed left-right polarity of one or more organ systems. In a patient with heterotaxia and a de novo reciprocal translocation t(6;18)(q21;q21), we found that the PA26 gene was disrupted by the 6q21 breakpoint. Northern blot analysis showed decreased expression of the PA26 gene in an Epstein-Barr virus-transformed cell line of this patient. During early embryogenesis of Xenopus, the orthologue of PA26, XPA26 is exclusively expressed in the notochord, a midline structure. This further supports a possible role of PA26 in human situs determination. Mutation analysis of human PA26 gene in 40 unrelated individuals with unexplained heterotaxia failed to identify mutations, indicating that PA26 mutations are not a frequent cause of heterotaxia in humans. Analysis of the PA26 gene structure resulted in the identification of a novel PA26-related gene family, which we have named the sestrin family, and which comprises three closely related genes in human and in mouse.

Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11).

Segmental duplications or low-copy repeats (LCRs) on chromosome 22q11 have been implicated in several chromosomal rearrangements. The presence of AT-rich regions in these duplications may lead to the formation of hairpin structures, which facilitate chromosomal rearrangement. Here we report the involvement of such a low-copy repeat in a t(X;22) associated with a neural tube defect. Molecular analysis of the chromosomal breakpoints revealed that the chromosome 22 breakpoint maps in the palindromic non-AT-rich NF1-like region of low-copy repeat B (LCR-B). No palindromic region was encountered near the breakpoint on chromosome X. Our findings confirm that there is no single mechanism leading to translocations with chromosome 22q11 involvement. Because LCR-B does not contain genes involved in neural tube development, we believe that the gene responsible for the observed phenotype is most likely localized on chromosome X.

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.

Molecular analysis of the reciprocal chromosomal translocation t(12;22)(p11.2;q13.3) cosegregating with a complex type of synpolydactyly showed involvement of an alternatively spliced exon of the fibulin-1 gene (FBLN1 located in 22q13.3) and the C12orf2 (HoJ-1) gene on the short arm of chromosome 12. Investigation of the possible functional involvement of the fibulin-1 protein (FBLN1) in the observed phenotype showed that FBLN1 is expressed in the extracellular matrix (ECM) in association with the digits in the developing limb. Furthermore, fibroblasts derived from patients with the complex type of synpolydactyly displayed alterations in the level of FBLN1-D splice variant incorporated into the ECM and secreted into the conditioned culture medium. By contrast, the expression of the FBLN1-C splice variant was not perturbed in the patient fibroblasts. Based on these findings, we propose that the t(12;22) results in haploinsufficiency of the FBLN1-D variant, which could lead to the observed limb malformations.

Treatment of rotator cuff arthropathy with a reversed Delta shoulder prosthesis.

The treatment of rotator cuff arthropathy is still a matter of debate. Up to now a hemiarthroplasty was usually used. We report the results obtained with a reversed shoulder prosthesis (Delta prosthesis, De Puy) in seven patients with severe rotator cuff arthropathy. The mean Constant score increased from 17.9/100 preoperatively to 56.7/100 postoperatively. The mean follow-up was 16 months. Loosening was not observed on follow-up x-rays.

Recurrent involvement of chromosomal region 6q21 in heterotaxy.

We present a patient with heterotaxy and a de novo, apparently balanced reciprocal translocation with breakpoints at 6q21 and 20p13. Another patient with heterotaxy was previously reported with a de novo balanced translocation involving chromosome band 6q21. The breakpoints in both patients on 6q21 were found to be located in the same chromosomal region spanning maximally 2 Mb. We speculate that the two breakpoints lead to the disruption of the function of a single gene, either directly or through long distance effects. Alternatively, the present observation suggests additional heterogeneity in heterotaxy in humans.

Intrafamilial clinical variability in type C brachydactyly.

Intrafamilial clinical variability in type C brachydactyly: In this report we describe a 4-generation family in which three members present variable clinical and radiological manifestations of brachydactyly type C. The observation of 'skipped generations' in the present family and in a few other families reported previously, may indicate that brachydactyly type C is not a true autosomal dominant condition due to mutations in a single gene.

Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.

Synpolydactyly (SPD) is a rare malformation of the distal limbs known to be caused by mutations in HOXD13. We have previously described a complex form of SPD associated with synostoses in three members of a Belgian family, which co-segregates with a t(12;22)(p11.2;q13.3) chromosomal translocation. The chromosome 12 breakpoint of this translocation maps to 12p11.2 between markers D12S1034 and D12S1596. Here we show that a mutation in the HOXD13 gene is not responsible for the phenotype, and present a physical map of the region around the 12p11.2 breakpoint. Starting from D12S1034 and D12S1596, we have established a contig approximately 1.5 Mb in length, containing 13 YAC clones, 16 BAC clones, and 11 cosmid clones. FISH analysis shows that cosmid LL12NCO1-149H4 maps across the breakpoint, and Southern blot experiments using fragments of this cosmid as probes identify a rearranged BamHI fragment in the patients carrying the translocation. A search for expressed sequences within the contig have so far revealed one CpG island, seven anonymous ESTs and three previously characterised genes, DAD-R, KRAG and HT21, all of which were found not to be directly disrupted by the translocation. The gene represented by EST R72964 was found to be disrupted by the translocation. These findings lay the groundwork for further efforts to characterise a gene critical for normal distal limb development that is perturbed by this translocation.

DNA analysis of a transplanted cryopreserved meniscal allograft.

SUMMARY: Meniscal transplantation is frequently performed in young patients with a single meniscal-deficient compartment as a result of previous total meniscectomy. Indications, operative techniques, and preservation of meniscal allografts have been studied extensively. In this study we compared the DNA profile of a meniscal allograft with that of the human recipient 1 year after transplantation. Applying techniques routinely used in forensic analysis, we were able to show that the DNA profile of the meniscal allograft was 95% identical to that of the human recipient. These findings indicate that 1 year after transplantation the meniscal allograft is nearly completely repopulated by host cells.

Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly.

We previously reported clinical and radiological findings in a Belgian family with a complex type of synpolydactyly associated with metacarpal and metatarsal synostoses, cosegregating with a balanced t(12;22). Recently, expansions of a polyalanine stretch within the first exon of the HOXD13 gene, which resides on chromosome 2q31, have been shown to cause synpolydactyly (SPD). Using exon amplification followed by direct sequencing, we were able to exclude the direct involvement of the HOXD13 gene in this family. As a first step toward the positional cloning of a candidate disease gene on chromosome 12 and/or 22 responsible for the type of complex synpolydactyly observed in this family, we report here the construction of a somatic cell hybrid retaining only the der(22) of the t(12;22)(p11.3;q13.3). STS content mapping and FISH experiments allowed us to position the chromosomal breakpoints between markers D12S1596 and D12S1034 on chromosome 12 and markers N73F4 and D22S158 on chromosome 22.