hrp0089p3-p068 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Frontal Behavior Dysfunctions Revealing a Dramatic Progression of Complex Cranial Base Abnormalities in a Severe Osteogenesis Imperfecta

Porquet-Bordes Valerie , Grandgeorge Naia , Moulin Pierre , Cheuret Emmanuel , Boetto Sergio , Sales De Gauzy Jerome , Gennero Isabelle , Tauber Maite , Edouard Thomas , Salles Jean Pierre

Background: In our bone unit, we were following since their younger age, two brothers with a severe osteogenesis imperfecta. We had no genetic confirmation but the severity of the disease combined with unaffected consanguine parents argues for a recessive autosomal transmission. Both present with highly severe form of osteogenesis imperfecta: repeated vertebral and peripheral fractures, long bone deformations, centromedullary nails on the lower limbs, major motor handicap and ...