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      Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls

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          Abstract

          Background

          Biallelic mutations in the non-coding RNA gene RMRP cause Cartilage-hair hypoplasia (CHH), a rare skeletal dysplasia in which the main phenotypic characteristic is severe progressive growth retardation.

          Objective

          This study compared the cranial dimensions of individuals with CHH to healthy subjects.

          Methods

          Lateral skull radiographs of 17 patients with CHH (age range 10 to 59 years) and 34 healthy individuals (age range 10 to 54 years) were analyzed for relative position of the jaws to skull base, craniofacial height and depth, as well as vertical growth pattern of the lower jaw, anterior cranial base angle, and the relationship between the cervical spine and skull base.

          Results

          We found that the length of the upper and lower jaws, and clivus were significantly decreased in patients with CHH as compared to the controls. Anterior cranial base angle was large in patients with CHH. Basilar invagination was not found.

          Conclusion

          This study found no severe craniofacial involvement of patients with CHH, except for the short jaws. Unexpectedly, mandibular deficiency did not lead to skeletal class II malocclusion.

          Clinical Impact

          Although the jaws were shorter in patients with CHH, they were proportional to each other. A short posterior cranial base was not associated with craniocervical junction pathology.

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          Most cited references30

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          Cephalometrics for you and me

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            Craniofacial and upper airway morphology in adult obstructive sleep apnea patients: A systematic review and meta-analysis of cephalometric studies.

            Obstructive sleep apnea (OSA) is one of the common sleep breathing disorders in adults, characterised by frequent episodes of upper airway collapse during sleep. Craniofacial disharmony is an important risk factor for OSA. Overnight polysomnography (PSG) study is considered to be the most reliable confirmatory investigation for OSA diagnosis, whereas the precise localization of site of obstruction to the airflow cannot be detected. Identifying the cause of OSA in a particular ethnic population/individual subject helps to understand the etiological factors and effective management of OSA. The objective of the meta-analysis is to elucidate altered craniofacial anatomy on lateral cephalograms in adult subjects with established OSA. Significant weighted mean difference with insignificant heterogeneity was found for the following parameters: anterior lower facial height (ALFH: 2.48 mm), position of hyoid bone (Go-H: 5.45 mm, S-H: 6.89 mm, GoGn-H: 11.84°, GoGn-H: 7.22 mm, N-S-H: 2.14°), and pharyngeal airway space (PNS-Phw: -1.55 mm, pharyngeal space: -495.74 mm2 and oro-pharyngeal area: -151.15 mm2). Significant weighted mean difference with significant heterogeneity was found for the following parameters: cranial base (SN: -2.25 mm, S-N-Ba: -1.45°), position and length of mandible (SNB: -1.49° and Go-Me: -5.66 mm) respectively, maxillary length (ANS-PNS: -1.76 mm), tongue area (T: 366.51 mm2), soft palate area (UV: 125.02 mm2), and upper airway length (UAL: 5.39 mm). This meta-analysis supports the relationship between craniofacial disharmony and obstructive sleep apnea. There is a strong evidence for reduced pharyngeal airway space, inferiorly placed hyoid bone and increased anterior facial heights in adult OSA patients compared to control subjects. The cephalometric analysis provides insight into anatomical basis of the etiology of OSA that can influence making a choice of appropriate therapy.
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              Growth of the maxilla in three dimensions as revealed radiographically by the implant method.

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                Author and article information

                Contributors
                Journal
                Front Endocrinol (Lausanne)
                Front Endocrinol (Lausanne)
                Front. Endocrinol.
                Frontiers in Endocrinology
                Frontiers Media S.A.
                1664-2392
                10 December 2021
                2021
                : 12
                : 741548
                Affiliations
                [1] 1 Department of Oral and Maxillofacial Diseases, University of Helsinki , Helsinki, Finland
                [2] 2 Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital , Helsinki, Finland
                [3] 3 Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki , Helsinki, Finland
                [4] 4 Folkhälsan Research Center , Helsinki, Finland
                [5] 5 Department of Molecular Medicine and Surgery, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital , Stockholm, Sweden
                Author notes

                Edited by: Nathalie Bravenboer, VU University Medical Center, Netherlands

                Reviewed by: Denise Pontes Cavalcanti, State University of Campinas, Brazil; Yanheng Zhou, Peking University Hospital of Stomatology, China

                *Correspondence: Heidi Arponen, heidi.arponen@ 123456helsinki.fi

                This article was submitted to Bone Research, a section of the journal Frontiers in Endocrinology

                Article
                10.3389/fendo.2021.741548
                8703216
                34956076
                9e495df8-09e2-41bf-9cb1-ce05f2cffde0
                Copyright © 2021 Arponen, Evälahti and Mäkitie

                This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

                History
                : 15 July 2021
                : 17 November 2021
                Page count
                Figures: 2, Tables: 1, Equations: 0, References: 30, Pages: 6, Words: 3013
                Funding
                Funded by: Academy of Finland , doi 10.13039/501100002341;
                Award ID: 332585
                Funded by: Suomen Hammaslääkäriseura Apollonia , doi 10.13039/501100005634;
                Funded by: Lastentautien Tutkimussäätiö , doi 10.13039/501100005744;
                Funded by: Helsingin ja Uudenmaan Sairaanhoitopiiri , doi 10.13039/100008376;
                Funded by: Sigrid Juséliuksen Säätiö , doi 10.13039/501100006306;
                Categories
                Endocrinology
                Original Research

                Endocrinology & Diabetes
                cartilage-hair hypoplasia,chondrodysplasia,craniofacial,basilar invagination,cephalometrics

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