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      Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series

      case-report

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          Abstract

          Cleidocranial dysplasia is a rare disease with an autosomal‐dominant inheritance that mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and radiological signs of a case series comprising three sisters and the son of one of the sisters, all with suspected bone dysplasia.

          Abstract

          The reported case series, to our knowledge, is the first family case of CCD in Colombia. It is important to take timely and appropriate action on disorders of genetic origin that can lead to deterioration in the quality of life of patients.

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          CARE 2013 Explanations and Elaborations: Reporting Guidelines for Case Reports.

          David Riley, Melissa S Barber, Gunver S Kienle … (2017)
          Well-written and transparent case reports (1) reveal early signals of potential benefits, harms, and information on the use of resources; (2) provide information for clinical research and clinical practice guidelines (CPGs), and (3) inform medical education. High-quality case reports are more likely when authors follow reporting guidelines. During 2011-2012 a group of clinicians, researchers, and journal editors developed recommendations for the accurate reporting of information in case reports that resulted in the CARE (CAse REport) Statement and Checklist. They were presented at the 2013 International Congress on Peer Review and Biomedical Publication, have been endorsed by multiple medical journals, and translated into nine languages. This explanation and elaboration document has the objective to increase the use and dissemination of the CARE Checklist in writing and publishing case reports. Each item from the CARE Checklist is explained and accompanied by published examples. The explanations and examples in this document are designed to support the writing of high-quality case reports by authors and their critical appraisal by editors, peer reviewers, and readers. This article and the 2013 CARE Statement and Checklist, available from the CARE website [www.care-statement.org] and the EQUATOR Network, [www.equator-network.org] are resources for improving the completeness and transparency of case reports.
          Article 0 comments Cited 532 times – based on 0 reviews     Review now
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            Cleidocranial dysplasia: clinical and molecular genetics.

            S Mundlos (1999)
            Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors. Mutations in the CBFA1 gene that presumably lead to synthesis of an inactive gene product were identified in patients with CCD. The function of CBFA1 during skeletal development was further elucidated by the generation of mutated mice in which the Cbfa1 gene locus was targeted. Loss of one Cbfa1 allele (+/-) leads to a phenotype very similar to human CCD, featuring hypoplasia of the clavicles and patent fontanelles. Loss of both alleles (-/-) leads to a complete absence of bone owing to a lack of osteoblast differentiation. These studies show that haploinsufficiency of CBFA1 causes the CCD phenotype. CBFA1 controls differentiation of precursor cells into osteoblasts and is thus essential for membranous as well as endochondral bone formation.
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              Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

              S Mundlos, F Otto, C Mundlos … (1997)
              Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.
              Article 0 comments Cited 78 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Dacia Isabel Malambo‐García:
                ORCID: https://orcid.org/0000-0002-3471-6934
                dmalambog@unicartagena.edu.co
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 26 December 2021
                Publication date Collection: December 2021
                Volume: 9
                Issue: 12 ( doiID: 10.1002/ccr3.v9.12 )
                Electronic Location Identifier: e05235
                Affiliations
                [ 1 ] Facultad de Medicina Departamento de Diagnóstico Universidad de Cartagena Cartagena de Indias Colombia
                [ 2 ] Facultad de Ciencias de la Salud Universidad del Magdalena Santa Marta Colombia
                [ 3 ] Grupo de Investigación UNIMOL Facultad de Medicina Universidad de Cartagena Cartagena de Indias Colombia
                [ 4 ] Facultad de Medicina Doctorado en Medicina Tropical Universidad de Cartagena Cartagena de Indias Colombia
                Author notes
                [*] [* ] Correspondence

                Dacia Isabel Malambo‐García, Grupo de Investigación UNIMOL, Facultad de Medicina, Universidad de Cartagena, Cartagena de Indias, Colombia.

                Email: dmalambog@ 123456unicartagena.edu.co

                Author information
                https://orcid.org/0000-0002-3471-6934
                Article
                Publisher ID: CCR35235
                DOI: 10.1002/ccr3.5235
                PMC ID: 8710844
                SO-VID: bce85e38-5680-4c7f-80ac-a353b77e8198
                Copyright © © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date revision received : 24 November 2021
                Date received : 23 August 2021
                Date accepted : 09 December 2021
                Page count
                Figures: 6, Tables: 0, Pages: 0, Words: 3930
                Funding
                Funded by: UNIMOL Research Group
                Categories
                Subject: Case Report
                Subject: Case Report
                Custom metadata
                source-schema-version-number 2.0
                cover-date December 2021
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.7.0 mode:remove_FC converted:27.12.2021

                Keywords: bone disease,cleidocranial dysplasia,orphan disease,rare disease
                Data availability:
                Keywords: bone disease, cleidocranial dysplasia, orphan disease, rare disease

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