Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.

Hajdu-Cheney syndrome (HCS) is an exceedingly rare connective tissue disorder primarily manifested by skeletal abnormalities including acro-osteolysis, severe osseous demineralization, distinctive craniofacial/dental abnormalities, and short stature. The syndrome is caused by gain-of-function mutations in the NOTCH2 gene, which disrupt bone remodeling and connective tissue integrity. While hearing loss is a known clinical manifestation of HCS, specific imaging findings have not been reported. We present the case of a 36-year-old man with HCS who underwent high-resolution CT of the temporal bones for evaluation of long-standing bilateral conductive hearing loss, which showed relatively symmetric, diffuse osseous demineralization of the temporal bones, with ossicular and otic capsule involvement.