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