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Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
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- Clewemar, Pantelis (author)
- Uppsala universitet,Endokrin tumörbiologi
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- Hailer, Nils P. (author)
- Uppsala universitet,Ortopedi
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- Hailer, Yasmin, 1972- (author)
- Uppsala universitet,Ortopedi
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- (creator_code:org_t)
- 2019-05-16
- 2019
- English.
- In: Molecular Genetics & Genomic Medicine. - : Wiley. - 2324-9269. ; 7:7
- Journal article (peer-reviewed)
Abstract
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- BackgroundOsteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture.MethodsIn this report we describe the clinical phenotype of two patients, a 28‐year‐old woman and her mother (54 years old), both with a history of short stature and multiple fractures.ResultsExome sequencing revealed the recurring IFITM5:c.‐14 C>T variant causing OI type V. Both patients had several fractures during childhood. CT‐scan and scintigraphy showed ossification of the origin and attachment of muscles and hypertrophic callus formation.ConclusionOssification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- BRIL
- heterotopic ossification
- IFITM5
- Osteogenesis imperfecta type V
Publication and Content Type
- ref (subject category)
- art (subject category)
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