scholarly journals Hereditary Multiple Exostoses with Ulnar Hemimelia

Author(s):  
Syed Wasif Ali Shah

Hereditary Multiple Exostoses is a skeletal dysplasia that is very rare and defined by formation of numerous cartilage capped benign tumours either pedunculated or sessile known as osteochondromas throughout skeleton especially around the growth plates of ribs, vertebrae, pelvis and long bones. Rarely it can present forearm problems such bowing deformity of radius, ulnar shortening and radiocapitellar dislocation or subluxation. We are presenting a case of 20 year old female who presented with left distal ulnar exostosis resulting in ulnar shortening and radial bowing with restricted supination and pronation range of movement. Other complaint was of multiple non tender bony hard lumps in both upper and lower limbs. Excision of distal ulnar exostosis was done which resulted in marked improvement in pronation and supination range of movement. Hereditary multiple exostoses with forearm deformities though very rare but can present and the treatment is conservative except if any bony swelling manifests any complications such as pain or associated deformity.

2013 ◽  
Vol 377 (1) ◽  
pp. 100-112 ◽  
Author(s):  
Julianne Huegel ◽  
Christina Mundy ◽  
Federica Sgariglia ◽  
Patrik Nygren ◽  
Paul C. Billings ◽  
...  

2018 ◽  
Vol 38 (2) ◽  
pp. 116-121 ◽  
Author(s):  
Maria d.P. Duque Orozco ◽  
Oussama Abousamra ◽  
Kenneth J. Rogers ◽  
Mihir M. Thacker

2021 ◽  
Author(s):  
yanhan deng ◽  
yujian liu ◽  
wei tu ◽  
liu yang

Abstract Background: Hereditary Multiple Osteochondromas(HMO) is a rare genetic musculoskeletal disorder characterized by multiple osteochondromas that form near to the growth plates of many bones. Loss-of-function mutations in EXT1 or EXT2 that encode glycosyltrasferases are the causal mutations for most HMO patients.Methods: After collecting the family history and clinical information, we used Whole-Exome Sequencing to find the pathogenic mutations in one Chinese Hereditary Multiple Exostoses pedigree. Sanger sequencing and relevant online databases were used to validate the screened variants. Lollipop plots were drew to map the reported mutations from online databases (Multiple Osteochondroma Mutation Database and clinvar)on a linear protein domains by MutationMapper.Results: A novel heterozygous splicing-site mutation in gene EXT1 (NM_000127:exon5:c.1417+1G>C,chr8:118834703) was found in this pedigree and mutation spectrum of genes EXT1 and EXT2 were demonstrated.Conclusions: Our results help this pedigree to identify the pathogenic variant and guide the prenatal diagnosis, also expand the mutation spectrum in Hereditary Multiple Osteochondromas.


Angiology ◽  
1983 ◽  
Vol 34 (5) ◽  
pp. 362-366 ◽  
Author(s):  
A. Norton de Matos ◽  
J. Mergulhão Mendonça ◽  
M. Caetano Pereira

Author(s):  
Dieter Metze ◽  
Vanessa F. Cury ◽  
Ricardo S. Gomez ◽  
Luiz Marco ◽  
Dror Robinson ◽  
...  

Author(s):  
Walter Blauth ◽  
Frank R. Schneider-Sickert

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