Waardenburg syndrome associated with unicameral bone cyst of the proximal humerus: a rare case

Abstract

Waardenburg syndrome (WS) is a rare hereditary neurocristopathy characterized by congenital sensorineural hearing loss and pigmentary abnormalities involving the skin, hair, and eyes. Orthopaedic manifestations are uncommon and association with benign bone lesions is exceedingly rare. Unicameral bone cyst (UBC) is a benign intramedullary cystic lesion commonly involving the proximal humerus in skeletally immature individuals. A 34-year-old female presented with pain in the right shoulder and wrist. Clinical examination revealed heterochromia iridis, dystopia canthorum, and congenital sensorineural hearing loss suggestive of Waardenburg syndrome. Radiographs, MRI, and CT imaging demonstrated a well-defined intramedullary cystic lesion involving the proximal humerus suggestive of unicameral bone cyst. The patient underwent curettage and bone grafting. Histopathological examination confirmed unicameral bone cyst. Postoperative recovery was uneventful with satisfactory radiological incorporation of graft and good functional outcome at six-month follow-up. Association of Waardenburg syndrome with unicameral bone cyst is extremely rare. Reporting such uncommon musculoskeletal associations contributes to better understanding of syndromic skeletal manifestations and their management.