Cleidocranial dysplasia, a rare skeletal disorder with failure of the cranial closure: case-based update

被引:6
作者
Azevedo Almeida, Laryssa C. [1 ]
Faraj de Lima, Franklin B. [1 ]
Matushita, Hamilton [2 ]
Valenca, Marcelo M. [3 ]
Ferreira Castro, Tamireis L. [4 ]
de Mendonca, Rafael N. [4 ]
机构
[1] Santa Casa de Misericordia Belo Horizonte, Ctr Neurol & Neurosurg, Belo Horizonte, MG, Brazil
[2] Univ Sao Paulo, Div Neurol Surg, Sao Paulo, SP, Brazil
[3] Univ Fed Pernambuco, Dept Neuropsychiat, Neurol & Neurosurg Unit, Recife, PE, Brazil
[4] Univ Ctr Belo Horizonte, Belo Horizonte, MG, Brazil
关键词
Craniofacial abnormalities; RUNX2; mutation; Cleidocranial dysostosis; Skeletal disorders; CRANIOPLASTY; DYSOSTOSIS; MUTATIONS;
D O I
10.1007/s00381-020-04831-z
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Background and aim Cleidocranial dysplasia is a rare disorder of skeletal development that mainly promotes, among other malformations, inadequate development of clavicles and failure in cranial closure. In this affection, the role of neurosurgery in addressing cranial defects is rarely discussed. Material and methods We conducted an extensive review of the literature using the PubMed database, giving a greater focus to publications in the field of neurosurgery. Additionally, we report a case of a 2-year-old female child with cleidocranial dysplasia. Results In our review, we encountered several cases of orthodontic implications but a few cases on cranial defect approach. Conclusion The articles present literature that is unanimous on the recommendation of expectant conduct in children since the cranial block can occur spontaneously, even if the delayed form. In our approach, we opted for an expected strategy concerning the cranial defect, using a helmet made for brain protection. We also made the referral for multidisciplinary monitoring of pediatrics, neuropediatrics, ophthalmology, dentistry, and orthopedics.
引用
收藏
页码:2913 / 2918
页数:6
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