Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p31 | (1) | ICCBH2019

Determinants of survival in osteogenesis imperfecta (OI) Type II

Nadar Ruchi , Saraff Vrinda , Hogler Wolfgang , Desai Maya , Shaw Nick

Introduction: In 1979 Sillence described Type II OI as perinatal lethal. We report two children whose features were consistent with Type II OI who survived beyond infancy. Both have mutations previously reported in cases of lethal OI.Case 1: This girl was born full term, small for gestational age (SGA) following antenatal detection of short bowed femora. Skeletal survey showed multiple long bone fractures and a small chest with beaded ribs. A COL1A2 gene...

ba0007p31 | (1) | IMPE2023

Determinants of survival in osteogenesis imperfecta (OI) Type II

Nadar Ruchi , Saraff Vrinda , Hogler Wolfgang , Desai Maya , Shaw Nick

Introduction: In 1979 Sillence described Type II OI as perinatal lethal. We report two children whose features were consistent with Type II OI who survived beyond infancy. Both have mutations previously reported in cases of lethal OI.Case 1: This girl was born full term, small for gestational age (SGA) following antenatal detection of short bowed femora. Skeletal survey showed multiple long bone fractures and a small chest with beaded ribs. A COL1A2 gene...