Intrathoracic Extension of a Giant Cell Tumour of the Medial End of Clavicle: A Case Report with Review of Literature.

Introduction: The clavicle is a very rare site for primary bone tumours, and Giant cell tumours of the clavicle are even rarer. Very few cases have been reported in the literature. Method: The authors report a rare presentation of intrathoracic extension of a giant cell tumour of the medial end of the clavicle, in an 18-year-old female. The patient had painful swelling at the sternal end of the clavicle associated with a painful shoulder range of motion. Complete resection of the mass was done, preserving the lateral half of the clavicle. Result and Discussion: At a 3-year follow-up, the patient has a good clinical outcome with no signs of recurrence. Being a very rare entity, no clear guidelines are available for the management of GCT of Clavicle. Adequate resection of the tumour mass remains the mainstay of treatment and has shown promising results. Denosumab has been proved to be effective in some studies, but the high cost of treatment is a major limitation in the Indian scenario. Conclusion: Resection of the tumour mass with partial cleidectomy provided good results in this patient.

Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report.

INTRODUCTION: Dyggve-Melchior-Clausen (DMC) syndrome was described in 1962 as an autosomal recessive type of spondyloepimetaphyseal dysplasia associated with mental retardation. Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain is mutated in DMC. CASE REPORT: A 6 year -old male child presented with bilateral gradually progressive genu varum deformity of 4 years' duration. There was no significant past medical and family history. A plain radiograph of his knee, pelvis, and spine shows some classical signs of skeletal dysplasia. A plain radiograph of the pelvis with both hips shows a classical semilunar, irregular lacy appearance around the iliac crest which is a pathognomonic radiological sign of this syndrome. CONCLUSION: The radiographic lacy appearance of iliac crests and generalized platyspondyly with double-humped end plates are pathognomonic of DMC.