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Case Report
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| Brachydactyly type B: A rare case | ||||||
| Juan Pablo Dominguez1, Waiz A. Wasey2, Sharefi Saleh3 | ||||||
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1MD, Physician, Department of Emergency Medicine, Hospital San Vicente de Paul, San Roque, Imbabura, Ecuador.
2MBBS, Shadan Institute of Medical Sciences, Hyderabad, TG, India. 3MD, University of Sint Eustatius School of Medicine, Cole Bay, St Maarten. | ||||||
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| How to cite this article |
| Dominguez JP, Wasey WA, Saleh S. Brachydactyly type B: A rare case. Int J Case Rep Images 2014;5(10):723–726. |
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Abstract
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Introduction:
Brachydactyly is the term used to describe disproportionately short fingers and/or toes. The abnormality may be isolated or a part of an underlying syndrome. There are many types of isolated brachydactyly, of which type B is a very rare one. It is characterized by underdevelopment of the fingers with the complete absence of fingernails with the thumb intact. However, some cases may show flattening or splitting of the thumb. ROR2 gene mutations are responsible for the condition. Very few cases of such nature has been reported.
Case Report: We report a case of a 35-year-old male who presented to the emergency room with an injury to the right hand. On physical examination both his hands had underdeveloped fingers with absent fingernails. His thumbs were intact and functional. He had no facial dysmorphism or abnormalities in his toes. The patient acknowledged a strong family history of similar features. Conclusion: Brachydactyly is the shortening of fingers with or without nails. The condition is diagnosed by clinical features, radiological studies, family history and genetic testing. Type B brachydactyly has an autosomal dominant inheritance pattern. The strong family history, typical clinical features and the X-ray of the hands helped us to label the patient as having brachydactyly type B. | |
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Keywords:
Brachydactyly type B, Short fingers, Absent fingernails, Underdeveloped fingers
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Author Contributions
Juan Pablo Dominguez – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Waiz A. Wasey – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Sharefi Saleh – Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published |
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Guarantor of submission
The corresponding author is the guarantor of submission. |
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Source of support
None |
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Conflict of interest
Authors declare no conflict of interest. |
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Copyright
© 2014 Juan Pablo Dominguez et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information. |
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