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PGMJ Online First, published on September 11, 2017 as 10.1136/postgradmedj-2017-135131 Images in medicine
Open fontanelles in an elderly man Case description
A 70-year-old man was evaluated for sinusitis with skull radiograph which demonstrated open anterior fontanelle. Physical examination revealed broad forehead, open anterior fontanelle, multiple impacted teeth and sloping shoulders with an abnormal hypermobile shoulders (figure 1). Family history revealed similar dentition problems and ability to oppose shoulders in his father, brothers and daughter. Chest radiography showed small bellshaped thoracic cage with short ribs and hypoplastic clavicles (figure 2). What is the cause of open fontanelle in this elderly patient? A diagnosis of cleidocranial dysplasia was made based on the typical clinical and radiological features. Cleidocranial dysplasia is a rare autosomal-dominant congenital defect primarily affecting bones that undergo intramembranous ossification.1 The typical features of cleidocranial dysplasia are aplastic or hypoplastic clavicles, dental abnormalities (supernumerary teeth and impacted teeth), delayed closure of the fontanelles, bell-shaped thorax, hypoplastic pelvis and phalangeal abnormalities.2 A classical clinical finding of cleidocranial dysplasia is hypermobility of the shoulders which is due to clavicular hypoplasia or aplasia.
Figure 1 Hypermobile shoulders.
Rakul Nambiar,1 Dalus Dae,2 Jithesh Balan,2 Anjali Srikumar3 1
Department of Medical Oncology, Regional Cancer Centre, Thiruvananthapuram, Kerala, India 2 Department of Internal Medicine, Government Medical College Hospital, Thiruvananthapuram, Kerala, India 3 Department of Anesthesiology, Sree Gokulam Medical College and Research Foundation, Thiruvananthapuram, Kerala, India Correspondence to Dr Rakul Nambiar; rakulnambiar@yahoo.com Contributors RN: substantial contributions to the conception or design of the work; acquisition, analysis or interpretation of data for the work; drafting the work or revising it critically for important intellectual content and final approval of the version to be published. DD: analysis and interpretation of data for the work. JB: acquisition, analysis or interpretation of data for the work. AS: drafting the work or revising it critically for important intellectual content. Competing interests None declared. Patient consent Obtained. Provenance and peer review Not commissioned; externally peer reviewed. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Figure 2 Chest radiography (posterior-anterior view) showing small bell-shaped thoracic cage and hypoplastic clavicles. To cite Nambiar R, Dae D, Balan J, et al. Postgrad Med J Published Online First: [please include Day Month Year]. doi:10.1136/postgradmedj-2017-135131
doi:10.1136/postgradmedj-2017-135131
Received 11 June 2017 Revised 4 August 2017 Accepted 22 August 2017
References
Postgrad Med J 2017;0:1.
1 Brueton LA, Reeve A, Ellis R, et al. Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. Am J Med Genet 1992;43:612–8. 2 Currall V, Clancy R, Dimond D, et al. Cleidocranial dysplasia. Curr Orthop 2007;21:159–62.
Nambiar R, et al. Postgrad Med J Month 2017 Vol 0 No 0
Copyright Article author (or their employer) 2017. Produced by BMJ Publishing Group Ltd under licence.
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Downloaded from http://pmj.bmj.com/ on September 15, 2017 - Published by group.bmj.com
Open fontanelles in an elderly man Rakul Nambiar, Dalus Dae, Jithesh Balan and Anjali Srikumar Postgrad Med J published online September 11, 2017
Updated information and services can be found at: http://pmj.bmj.com/content/early/2017/09/11/postgradmedj-2017-135 131
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To request permissions go to: http://group.bmj.com/group/rights-licensing/permissions To order reprints go to: http://journals.bmj.com/cgi/reprintform To subscribe to BMJ go to: http://group.bmj.com/subscribe/
PGMJ Online First, published on September 11, 2017 as 10.1136/postgradmedj-2017-135131 Images in medicine
Open fontanelles in an elderly man Case description
A 70-year-old man was evaluated for sinusitis with skull radiograph which demonstrated open anterior fontanelle. Physical examination revealed broad forehead, open anterior fontanelle, multiple impacted teeth and sloping shoulders with an abnormal hypermobile shoulders (figure 1). Family history revealed similar dentition problems and ability to oppose shoulders in his father, brothers and daughter. Chest radiography showed small bellshaped thoracic cage with short ribs and hypoplastic clavicles (figure 2). What is the cause of open fontanelle in this elderly patient? A diagnosis of cleidocranial dysplasia was made based on the typical clinical and radiological features. Cleidocranial dysplasia is a rare autosomal-dominant congenital defect primarily affecting bones that undergo intramembranous ossification.1 The typical features of cleidocranial dysplasia are aplastic or hypoplastic clavicles, dental abnormalities (supernumerary teeth and impacted teeth), delayed closure of the fontanelles, bell-shaped thorax, hypoplastic pelvis and phalangeal abnormalities.2 A classical clinical finding of cleidocranial dysplasia is hypermobility of the shoulders which is due to clavicular hypoplasia or aplasia.
Figure 1 Hypermobile shoulders.
Rakul Nambiar,1 Dalus Dae,2 Jithesh Balan,2 Anjali Srikumar3 1
Department of Medical Oncology, Regional Cancer Centre, Thiruvananthapuram, Kerala, India 2 Department of Internal Medicine, Government Medical College Hospital, Thiruvananthapuram, Kerala, India 3 Department of Anesthesiology, Sree Gokulam Medical College and Research Foundation, Thiruvananthapuram, Kerala, India Correspondence to Dr Rakul Nambiar; rakulnambiar@yahoo.com Contributors RN: substantial contributions to the conception or design of the work; acquisition, analysis or interpretation of data for the work; drafting the work or revising it critically for important intellectual content and final approval of the version to be published. DD: analysis and interpretation of data for the work. JB: acquisition, analysis or interpretation of data for the work. AS: drafting the work or revising it critically for important intellectual content. Competing interests None declared. Patient consent Obtained. Provenance and peer review Not commissioned; externally peer reviewed. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Figure 2 Chest radiography (posterior-anterior view) showing small bell-shaped thoracic cage and hypoplastic clavicles. To cite Nambiar R, Dae D, Balan J, et al. Postgrad Med J Published Online First: [please include Day Month Year]. doi:10.1136/postgradmedj-2017-135131
doi:10.1136/postgradmedj-2017-135131
Received 11 June 2017 Revised 4 August 2017 Accepted 22 August 2017
References
Postgrad Med J 2017;0:1.
1 Brueton LA, Reeve A, Ellis R, et al. Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. Am J Med Genet 1992;43:612–8. 2 Currall V, Clancy R, Dimond D, et al. Cleidocranial dysplasia. Curr Orthop 2007;21:159–62.
Nambiar R, et al. Postgrad Med J Month 2017 Vol 0 No 0
Copyright Article author (or their employer) 2017. Produced by BMJ Publishing Group Ltd under licence.
1
Downloaded from http://pmj.bmj.com/ on September 15, 2017 - Published by group.bmj.com
Open fontanelles in an elderly man Rakul Nambiar, Dalus Dae, Jithesh Balan and Anjali Srikumar Postgrad Med J published online September 11, 2017
Updated information and services can be found at: http://pmj.bmj.com/content/early/2017/09/11/postgradmedj-2017-135 131
These include:
References Email alerting service
This article cites 2 articles, 0 of which you can access for free at: http://pmj.bmj.com/content/early/2017/09/11/postgradmedj-2017-135 131#BIBL Receive free email alerts when new articles cite this article. Sign up in the box at the top right corner of the online article.
Notes
To request permissions go to: http://group.bmj.com/group/rights-licensing/permissions To order reprints go to: http://journals.bmj.com/cgi/reprintform To subscribe to BMJ go to: http://group.bmj.com/subscribe/
