Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments

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.

Hailer, Nils P.Uppsala universitet,Ortopedi(Swepub:uu)nilha837 (author)
Hailer, Yasmin,1972-Uppsala universitet,Ortopedi(Swepub:uu)yasha698 (author)
Klar, Joakim,1974-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)jkl27173 (author)
Kindmark, Andreas,1967-Uppsala universitet,Endokrinologi och mineralmetabolism(Swepub:uu)andrkind (author)
Ljunggren, ÖstenUppsala universitet,Endokrinologi och mineralmetabolism(Swepub:uu)osteljun (author)
Stattin, Eva-LenaUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab(Swepub:uu)evast375 (author)
Uppsala universitetEndokrin tumörbiologi (creator_code:org_t)

By the author/editor: Clewemar, Pantel ...; Hailer, Nils P.; Hailer, Yasmin, ...; Klar, Joakim, 19 ...; Kindmark, Andrea ...; Ljunggren, Östen; show more...; Stattin, Eva-Len ...; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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