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Case Studies | Radiology and Medical Imaging Sciences | India | Volume 12 Issue 4, April 2023
A Rare Case of Autosomal Dominan-Craniometaphyseal Dysplasia, Wormion Bone Type
Sweta Krishnan | Tariq Imran | Ashok Kumar Mandal
Abstract: Background: Craniometaphyseal dysplasia (CMD) is a rare hereditary disorder characterised by hyperostosis and sclerosis of craniofacial bones, dental malocclusion, and flared metaphysics of long bones. We present a case of autosomal dominant form of CMD, wormion bone type. Case Report: A 22-year-old male patient visited Otolaryngology department of our institute with complaints of bilateral hearing loss and frequent nasal obstruction. Radiological assessment showed diffuse sclerosis and hyperostosis of calvaria, under tubulation of long bones with multiple wormion bones. Provisional diagnosis of AD-CMD was made which was confirmed by genetic analysis. Conclusion: CMD is a rare disease falling under the spectrum of Craniotubular Dysplasias. Establishing correct diagnosis requires multidisciplinary approach with final diagnosis confirmed by genetic analysis.
Keywords: Craniometaphyseal Dysplasia, Craniotubular Dysplasia, Erlenmeyer Flask Deformity, Wormion Bone, Ankh Mutation, Hyperostosis
Edition: Volume 12 Issue 4, April 2023,
Pages: 1027 - 1029