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ba0003pp388 | Other diseases of bone and mineral metabolism | ECTS2014

Late onset presentation of osteogenesis imperfecta with additional mutation on GNAS gene: case report

Stathopoulos Konstantinos D , Koromila Theodora , Paschalis Eleftherios P , Soultanis Konstantinos , Atsali Erato , Bournazos Ilias , Damianou Eirini , Zoubos Aristides B , Papaggelopoulos Panagiotis J , Skarantavos Grigoris

Aim: We present the case of a 36y female patient with multiple fragility fractures after the age of 21 and mutations in COL1A1, COL1A2 and GNAS genes.Material and methods: A 36y female patient with multiple fractures of the axial and appendicular skeleton was referred to us for consultation. The patient was born with hexadactyly of the left foot and had a history of mild thoracolumbar scoliosis (10°) and medium height (165 cm) with no other history ...

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Late onset presentation of osteogenesis imperfecta with additional mutation on GNAS gene: case report

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