A.V. Lopatin, S.A. Yasonov, A.Yu. Kugushev, D.V. Rogozhin. Craniometaphyseal dysplasia: clinical manifestations, differential diagnosis difficulties and treatment options. Golova i sheya. Rossijskij zhurnal Head and neck Russian Journal. 2020;8(2):22–32 (in Russian).
DOI: https://doi.org/10.25792/HN.2020.8.2.22-32
Introduction. Craniomethaphyseal dysplasia is a rare congenital disease characterized by hyperostosis of the skull bones and an elongation of metaphyses of long tubular bones. Hyperostosis leads to deformation of the forehead and paranasal region, hypertelorism, flattening of the nasal dorsum, obliteration of the paranasal sinuses and mastoid process. Channels compression caused by hyperostosis of the base of the skull leads to symptoms such as blindness, deafness, and facial nerve paralysis. Material and methods: A retrospective analysis of data on treatment and follow-up of children with craniomethaphyseal dysplasia who were admitted to the Department of Maxillofacial Surgery of the Russian Children’s Clinical Hospital in the period 2002–2018 was carried out.
Results. In all cases, the referral diagnosis did not correspond to the final one, which indicates a low awareness of this disease. Observation is the method of choice, but a single experience of early surgical treatment has shown a stable long-term result.
Conclusion. Craniomethaphyseal dysplasia is a rare disease that is often misdiagnosed. Precise and early diagnosis and knowledge of the nature of the disease are important for establishing preventive treatment and the proper treatment of complications, as well as for assessing the prognosis.
Key words: craniometaphyseal dysplasia, ANKH, fibro-bone lesions, diffuse hyperostosis, maxillofacial region, computed tomography, hypertelorism, nasal breathing disorder, choanal atresia, autosomal dominant, craniotubular bone disease
Conflicts of interest. The authors have no conflicts of interest to declare.
Funding. There was no funding for this study.
For citation: A.V. Lopatin, S.A. Yasonov, A.Yu. Kugushev, D.V. Rogozhin. Craniometaphyseal dysplasia: clinical manifestations, differential diagnosis difficulties and treatment options. Golova i sheya. Rossijskij zhurnal Head and neck Russian Journal. 2020;8(2):22–32 (in Russian).
The authors are responsible for the originality of the data presented and the possibility of publishing illustrative material – tables, figures, photographs of patients.