Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p108 | (1) | ICCBH2017

Genetic transmission of osteogenesis imperfecta type V by a healthy mosaic carrier father

Symoens Sofie , Maurer Kathrin , Schweigmann Gisela , Steichen-Gersdorf Elisabeth

Background: OI-V is an autosomal dominant type of OI, which is characterized by recurrent fractures, hyperplastic callus formation and forearm interosseous membrane calcification. Less than 5% of OI patients are diagnosed with OI-V. The 5’-UTR IFITM5 mutation is a single recurrent heterozygous mutation reported in the majority of these patients.Presenting problem: The 2 years old girl was born at term, BW 2880g(P25-50), L 48 cm (P25-50), OF...