Introduction The clinical phenotype of the chromosome 2q31 deletion syndrome consists of limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. Additional internal organ anomalies—for example, heart defects, ocular anomalies—may be present. Hemizygosity for HOXD13 and EVX2 genes was thought to cause the observed skeletal defects. Recently, based on the phenotype of patients with overlapping 2q31 interstitial deletions, a new SHFM5 locus was proposed, proximal to the HOXD cluster, between EVX2 and marker D2S294. DLX1 and DLX2 haploinsufficiency was suggested as the most plausible explanation for the observed SHFM-like limb anomalies in these cases. Methods and results Five unique, interstitial 2q31 deletion patients were selected to further characterise the 2q31 region and to establish a genotype/phenotype correlation map. The size of the deletions was delineated with a chromosome 2 specific tiling path bacterial artificial chromosome (BAC) array. The clinical and molecular data for this group of patients were compared to others in the literature. A common locus for the observed skeletal anomalies, including the HOXD genes and surrounding regulatory sequences, was delineated. These results correlate with recently published studies in animal models. In addition, a critical region for the facial gestalt of the 2q31.1 microdeletion syndrome was delineated. Conclusions These results reinforce the hypothesis that the variable skeletal phenotype in 2q31 deletion patients is a result of hemizygosity for the HOXD genes and that the 2q31.1 microdeletion syndrome is a well defined and clinically recognisable phenotype.

Purpose: The aims of this study were to (1) investigate the effect of hydrodilatation in frozen shoulder patients on objective indices of shoulder functionality and subjective outcomes of pain, mobility, kinesiophobia, depression, and anxiety, and (2) progress knowledge about the reciprocal temporal relationship between psychological parameters at baseline and objective and subjective outcomes at 3‐month follow‐up.Methods: We evaluated the clinical and psychological status of 72 patients with a frozen shoulder before and after hydrodilatation, using the Constant Murley score, the Visual Analogue score, the Tampa Scale for Kinesiophobia, the Hospital Anxiety and Depression Scale, and the Shoulder Pain And Disability Index.Results: We noted a significant improvement in functionality, pain and disability (p < .001). Depression and anxiety improved significantly (p < .001) between baseline and 3‐month follow‐up. Prospective analyses demonstrated that psychological factors are more likely to predict outcomes of hydrodilatation than vice versa.Conclusion: Hydrodilatation followed by physiotherapy is an excellent way to treat patients with recalcitrant frozen shoulder, resulting in a continuous improvement of ROM and pain. Physiotherapists and physicians should be aware that psychological factors might have an impact on the treatment outcome.