Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature
Year: 2025
Type: article
Study design: Case Report
Abstract: ABSTRACT 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 male with HCS who underwent high-resolution CT of the temporal bones for evaluation of longstanding bilateral conductive hearing loss, which showed relatively symmetric, diffuse osseous demineralization of the temporal bones, with ossicular and otic capsule involvement. ABBREVIATIONS: HCS＝ Hajdu-Cheney Syndrome; CT = Computed Tomography; OI = Osteogenesis Imperfecta
DOI: 10.3174/ajnr.a9121
Authors: Daniel Kim, Manuel Patino, Hugh D. Curtin, Ryan A. Bartholomew, David H. Jung, Hillary R. Kelly
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4416882825