2006 - UZ Leuven

polyalanine tract expansion. Three members of this pedigree wereheterozygotes with features typical of SPD. Two further membersdemonstrate a more severe phenotype consistent with homozygosityfor the familial mutation. We also report a child from aconsanguineous Somali family homozygous for the same molecularlesion. Characteristic changes include a complex central polydactyly inthe hands, abnormal modeling of the metacarpals and metatarsals, anincreased number of carpal bones with abnormal shapes, hypoplasiaor absence of the fifth digital rays in the feet, hypoplasia of the middlephalanges and abnormally long proximal phalanges in hands and feet.These cases illustrate the distinct phenotype associated withhomozygosity for a HOXD13 mutation and also highlight theimportance of considering homozygosity for a dominant mutation inconsanguineous pedigrees.JACOBS R., DEBEER P.: Calcifying tendonitis of the rotator cuff.Functional outcome after arthroscopic treatment. Acta Orthop. Belg.,2006; 72: 369-374.In this study, we assessed the functional results after arthroscopicexcision of rotator cuff calcifications. Sixty-one shoulders in 57patients with chronic calcifying tendinitis of the rotator cuff weretreated with arthroscopic excision, subacromial bursa debridementand shaving. In patients with fraying or roughness of thecoracoacromial ligament, an acromioplasty was also performed.Patients were evaluated after a mean follow-up of 15 months. Themodified Constant score and DASH score significantly improved from33,4 to 66,8 and from 49,7 to 17,3 respectively. Performing anacromionplasty did not influence the final outcome. Frozen shoulderwas a frequent complication (18%) without significant effect on thefinal DASH or Constant score. The presence of residual calcificationsafter arthroscopic needling did not influence the final outcome. Wetherefore believe that the presence of residual calcifications can beaccepted if this is deemed necessary to preserve the integrity of thetendon.LAUWERYNS P.: Role of conservative treatment of cervical spineinjuries. Book of abstracts, XIIIth Brussels International Spine Symposium“Fractures of the spine, tumors in the spine. November 2006.Surgical fixation of fractures in general, has gained popularity.Improved imaging techniques together with more reliable surgicaltools have lowered the threshold for surgery, offering the patient a61