Alexander Van Tongel1, Iwein Piepers2, Lieven De Wilde2. 1. Department of Orthopaedic Surgery and Traumatology, Ghent University Hospital, Gent, Belgium. Electronic address: Alexander.vantongel@uzgent.be. 2. Department of Orthopaedic Surgery and Traumatology, Ghent University Hospital, Gent, Belgium.
Abstract
BACKGROUND: Patients with cleidocranial dysplasia (CCD) can have a congenital partial or total absence of the clavicle. The aim of this study was to evaluate the functional shoulder score in these patients. MATERIAL AND METHODS: Patients with CCD who were members of a social media group were invited to take part in an Internet-based survey. The questionnaire was composed of 3 general questions, a question concerning partial or total absence of the clavicle, and 3 patient-based shoulder scores (American Shoulder and Elbow Surgeons score; shortened Disabilities of the Arm, Shoulder, and Hand score; and patient-based Constant-Murley score). RESULTS: Thirty-six patients (27 women, 9 men) with a mean age of 40 years participated in the survey; 17 patients had a bilateral absence, 16 patients had a bilateral partial absence, and 3 patients had a total absence on one side and a partial absence of the clavicle on the other side. The average patient-based Constant-Murley score was 79; shortened Disabilities of the Arm, Shoulder, and Hand score, 11; and American Shoulder and Elbow Surgeons score, 93. There was no significant difference in the scores between left and right. There was no correlation between partial and total absences and the shoulder scores. CONCLUSION: Patients with self-reported CCD are subjectively normal to their peers when they are evaluated with 3 common shoulder scores. There was no correlation between partial and total absences and the shoulder scores.
BACKGROUND:Patients with cleidocranial dysplasia (CCD) can have a congenital partial or total absence of the clavicle. The aim of this study was to evaluate the functional shoulder score in these patients. MATERIAL AND METHODS:Patients with CCD who were members of a social media group were invited to take part in an Internet-based survey. The questionnaire was composed of 3 general questions, a question concerning partial or total absence of the clavicle, and 3 patient-based shoulder scores (American Shoulder and Elbow Surgeons score; shortened Disabilities of the Arm, Shoulder, and Hand score; and patient-based Constant-Murley score). RESULTS: Thirty-six patients (27 women, 9 men) with a mean age of 40 years participated in the survey; 17 patients had a bilateral absence, 16 patients had a bilateral partial absence, and 3 patients had a total absence on one side and a partial absence of the clavicle on the other side. The average patient-based Constant-Murley score was 79; shortened Disabilities of the Arm, Shoulder, and Hand score, 11; and American Shoulder and Elbow Surgeons score, 93. There was no significant difference in the scores between left and right. There was no correlation between partial and total absences and the shoulder scores. CONCLUSION:Patients with self-reported CCD are subjectively normal to their peers when they are evaluated with 3 common shoulder scores. There was no correlation between partial and total absences and the shoulder scores.
Authors: Emily G Miller; Amanda L Woodward; Grace Flinchum; Jennifer L Young; Holly K Tabor; Meghan C Halley Journal: Genet Med Date: 2021-07-19 Impact factor: 8.864