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Publication . Article . Other literature type . 2015

Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta

Evelise Silva Brizola; Edward F. McCarthy; Jay R. Shapiro;
Open Access
Published: 01 Jan 2015 Journal: Clinical Cases in Mineral and Bone Metabolism (eissn: 1971-3266, Copyright policy )
Publisher: CIC Edizioni Internazionali
BACKGROUND Osteogenesis Imperfecta (OI) is an heritable systemic disorder of connective tissue due to different sequence variants in genes affecting both the synthesis of type I collagen and osteoblast function. Dominant and recessive inheritance is recognized. Approximately 90% of the OI cases are due to mutations in COL1A1/A2 genes. We clinically and radiologically describes an adult male with type III osteogenesis imperfecta who presents a rare bone dysplasia termed bulbous epiphyseal deformity in association with popcorn calcifications. Popcorn calcifications may occur with bulbous epiphyseal deformity or independently. METHODS Molecular analysis was performed for COL1A1, COL1A2, LEPRE1 and WNT1 genes. RESULTS An uncommon COL1A1 mutation was identified. Clinical and radiological exams confirmed a distinctive bulbous epiphyseal deformity with popcorn calcifications in distal femurs. We have identified four additional OI patients reported in current literature, whose X-rays show bulbous epiphyseal deformity related to mutations in CR-TAP, LEPRE1 and WNT1 genes. CONCLUSION The mutation identified here had been previously described twice in OI patients and no previous correlation with bulbous epiphyseal deformity was described. The occurrence of this bone dysplasia focuses attention on alterations in normal growth plate differentiation and the subsequent effect on endochondral bone formation in OI.
Subjects by Vocabulary

Microsoft Academic Graph classification: Type I collagen Osteogenesis imperfecta medicine.disease medicine Epiphysis medicine.anatomical_structure Connective tissue Mutation medicine.disease_cause Deformity medicine.symptom business.industry business Chondrocyte Pathology medicine.medical_specialty Dysplasia


Materials Science (miscellaneous), Case Report

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