Craniometaphyseal dysplasia: Clinical manifestations, differential diagnosis difficulties and treatment options

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. © 2020 All-Russian Federation of the Specialists in Head and Neck Diseases. All rights reserved.

Авторы
Номер выпуска
2
Язык
Русский
Страницы
22-32
Статус
Опубликовано
Том
8
Год
2020
Организации
  • 1 Russian Children's Clinical Hospital, FSBEI HE RSMU n.a. N.I. Pirogov of the Ministry of Health of the Russian Federation, Moscow, Russian Federation
  • 2 FSBI NMSC CHOI n.a. Dmitry Rogachev of the Ministry of Health of the Russian Federation, Moscow, Russian Federation
  • 3 FSAEI HE Peoples' Friendship University of Russia, Moscow, Russian Federation
Ключевые слова
ANKH; Autosomal dominant; Choanal atresia; Computed tomography; Craniometaphyseal dysplasia; Craniotubular bone disease; Diffuse hyperostosis; Fibro-bone lesions; Hypertelorism; Maxillofacial region; Nasal breathing disorder
Цитировать
Поделиться

Другие записи

Degtyarev N.E., Mukhametshin R.F., Mamedov S., Apresyan S.V., Kovgan D.S., Semenova Y.A.
Голова и шея. Российское издание. Журнал Общероссийской общественной организации "Федерация специалистов по лечению заболеваний головы и шеи". Том 8. 2020. С. 61-67