HEREDITARY MULTIPLE EXOSTOSES PRESENTING WITH CHEST PAIN IN ADOLESCENT MALE

Chest pain in pediatric patients is uncommon. Chest pain due to hemothorax is rare. Although hemothorax is usually a result of trauma, it has been reported as a complication of costal exostoses.1-6 The youngest such patient reported, to our knowledge, was 7 years old. We report a case of hemothorax in a 3½-year-old boy with hereditary multiple exostoses. CASE HISTORY A 3½-year-old boy was referred for evaluation of an asymptomatic, right-sided pleural effusion. The child, who was adopted from Romania at 1 year of age, was a known chronic hepatitis B carrier. He had been malnourished when he was first adopted, but he was currently thriving, with height and weight at the 50th percentile for age.

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Correction of knee and ankle valgus in hereditary multiple exostoses using the Ilizarov apparatus

Journal of Orthopaedics and Traumatology ◽

10.1007/s10195-008-0098-z ◽

2008 ◽

Vol 9 (1) ◽

pp. 11-15 ◽

Cited By ~ 5

Author(s):

E. Ofiram ◽

S. Eylon ◽

S. Porat

Keyword(s):

Hereditary Multiple Exostoses ◽

Multiple Exostoses ◽

Ilizarov Apparatus ◽

Ankle Valgus

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Magnetic Resonance Imaging in Symptomatic Children With Hereditary Multiple Exostoses of the Hip

Journal of Pediatric Orthopaedics ◽

10.1097/bpo.0000000000000772 ◽

2018 ◽

Vol 38 (2) ◽

pp. 116-121 ◽

Cited By ~ 4

Author(s):

Maria d.P. Duque Orozco ◽

Oussama Abousamra ◽

Kenneth J. Rogers ◽

Mihir M. Thacker

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Resonance Imaging ◽

Hereditary Multiple Exostoses ◽

Multiple Exostoses

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Hereditary Multiple Exostoses

Atlas of Genetic Diagnosis and Counseling ◽

10.1007/978-1-60327-161-5_93 ◽

2007 ◽

pp. 487-492

Keyword(s):

Hereditary Multiple Exostoses ◽

Multiple Exostoses

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Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation Spectrum

10.21203/rs.3.rs-770260/v1 ◽

2021 ◽

Author(s):

yanhan deng ◽

yujian liu ◽

wei tu ◽

liu yang

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Mutation Spectrum ◽

Loss Of Function ◽

Site Mutation ◽

Hereditary Multiple Exostoses ◽

Multiple Osteochondromas ◽

Online Databases ◽

Whole Exome ◽

Multiple Exostoses

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.

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