Kozlowski-Celermajer Syndrome

Malformative syndrome characterized by musculoskeletal anomalies (humerospinal dysostosis) associated with cardiac malformation (cardiomegaly, tricuspid regurgitation, and pulmonary hypertension).

Humerospinal Dysostosis; Humerospinal Dysostosis with Congenital Heart Disease.

Four cases are reported in the literature, two of which were half-siblings. Presumed autosomal dominant inheritance with variable penetrance.

Musculoskeletal anomalies were the primary findings and included dysplastic vertebrae with midcoronal clefts, shortened humeri with distal bifurcation, subluxated elbow and knee joints, shortened and hypotubular long bones of the lower extremities that were often bowed, widened iliac bones, and talipes equinovarus. Range of motion of affected joints was limited. Scoliosis developed in one patient. All three patients had murmurs and two had cardiomegaly on the chest radiograph. Tricuspid regurgitation and pulmonary hypertension were diagnosed by cardiac catheterization in the second half-sibling at age 2 years. Both half-siblings, who died at ages of 7 months and 8 years, respectively, were found to have thickened and stenotic mitral and tricuspid valves, right atrial and ventricular hypertrophy with dilatation and endocardial fibrosis on autopsy. The pulmonic and aortic valves were only mildly affected.

Cardiac evaluation, particularly echocardiography, prior to anesthesia to identify valvular anomalies and pulmonary hypertension is required. Patients with pulmonary hypertension are at greater risk for perioperative cardiac morbidity. Anesthetic management should be directed toward lowering, or at least preventing a rise in, pulmonary artery pressure. Endocarditis prophylaxis may be required, depending on the proposed procedure. Extremities with contracted joints require careful positioning and padding to maintain the limb in the usual position and prevent injury to pressure points.