Cleidocranial dysplasia, a rare skeletal disorder with failure of the cranial closure: case-based update
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CASE-BASED REVIEW
Cleidocranial dysplasia, a rare skeletal disorder with failure of the cranial closure: case-based update Laryssa C. Azevedo Almeida 1 & Franklin B. Faraj de Lima 1 & Hamilton Matushita 2 & Marcelo M. Valença 3 & Tamireis L. Ferreira Castro 4 & Rafael N. de Mendonça 4 Received: 13 June 2020 / Accepted: 22 July 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract 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. Keywords Craniofacial abnormalities . RUNX2 mutation . Cleidocranial dysostosis . Skeletal disorders
Introduction
Historical background
Cleidocranial dysplasia is a malformation of a heterogeneous group of skeletal dysplasias. It is a rare entity, with few cases reported in the literature, with an estimated prevalence of 1 case per 1,000,000 individuals. [1, 2]: Craniofacial and dental abnormalities, clavicle hypoplasia or aplasia, and delayed closure of cranial sutures are the main features of the syndrome [3–6].
Despite being a rare disorder, the first report described in the medical literature is attributed to Meckel, a professor of Anatomy at the University of Halle [7]. In 1765, Martin described the cases of a father and son affected by the syndrome, recognizing their inherited nature [7]. In 1871, the German Scheuthauer published the work entitled “Combination of rudimentary clavicles with cranial abnormalities in adult humans.” The respective work identified the association between the two alterations as part of the same clinical disorder [8]. Later, in 1898, Marie and Sainton published an article describing the nosological entity as hereditary cleidocranial dysostosis [9, 10]. The condition has since become known as Scheuthauer-Marie-Sainton syndrome. Later works identified the characteristics of the syndrome in the skeleton of prehistoric individuals, indicating that the disorder is present in humanity long before its recognition by the medical community [11].
* Laryssa C. Azevedo Almeida laryssa
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