1. Blount disease and familial inheritance in Ghana, area cross-sectional study.
- Author
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Jansen N, Hollman F, Bovendeert F, Moh P, Stegmann A, and Staal HM
- Subjects
- Cross-Sectional Studies, Ghana epidemiology, Humans, Bone Diseases, Developmental, Osteochondrosis congenital
- Abstract
Objective: The objective of this study is to study familial inheritance for Blount disease to create better understanding of the aetiology of Blount disease., Methods: After reviewing patient files and conventional roentgenologic imaging, 139 patients with Blount disease were included in this cross-sectional study, of which 102 patients were interviewed. During the interviews, patient characteristics and family history were collected. Blood samples were taken from five patients and three families and a whole exome sequencing was performed., Results: Although patients came from all over the country, 90% of the patients belonged to the Akan tribe. A positive family history was found in 63 families (62%), of which, almost two-third had a positive family history in a first-degree family member. In most of the cases (64%), the varus legs resolved over time. In 9%, severe bowing remained 'just like the patient'. The results of the whole exome sequencing did not show a genetic predisposition., Conclusion: This study describes a large group of Blount patients. Because of the high numbers of positive family history and the centralisation of patients in the Akan region, a familial predisposition is suggested. Further genetic research is essential for better understanding of the possible multifactorial aetiology in Blount disease., Competing Interests: Competing interests: No, there are no competing interests., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2021
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