Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p48 | (1) | ICCBH2019

Does improved genetic screening make it more difficult to diagnose Osteogenesis Imperfecta?

Burke Eleanor , ODonnell Gillian , McCarron Laura , McDonnell Ciara

Background: Genetic advances have led to the identification of 14 genes implicated in Osteogenesis imperfecta [OI], encompassing 96–98% of cases. Hallmark features of osteogenesis imperfecta include fractures from minimal trauma, bowing of the legs and growth retardation. Non-skeletal features include blue sclera, dentinogenesis imperfecta, hearing and refractory visual deficits, pulmonary dysfunction and cardiac valvular malformations. Classical radiographic features are...

ba0007p123 | (1) | ICCBH2019

Odontochondrodysplasia in association with a TRIP11 mutation

Sheridan Sabrina , McCarron Laura , Donnell Gillian O , McDonnell Ciara

Background: Pathogenic mutations in thyroid hormone receptor interactor 11 (TRIP11) have previously been associated with achondrogenesis1A, a lethal autosomal recessive skeletal dysplasia. Recent findings have suggested that hypomorphic mutations of TRIP11 result in odontochondrodysplasia (ODCD), a rare syndrome associated with spondylometaphyseal dysplasia and dentinogenesis imperfecta.Presenting problem: This is the case of a term female born to non-co...

ba0007p125 | (1) | ICCBH2019

SCN8a mutations and osteoporosis. Is osteocyte dysfunction the cause or the consequence?

O'Donnell Gillian , Halpenny Leah , Burke Eleanor , McCarron Laura , Sheridan Sabrina , McDonnell Ciara

Background: Mutations in the SCN8a gene, which encodes one of the most abundant voltage gated sodium channels; Nav1.6, has a strong association with epileptic encephalopathy type 13, ataxia, muscle atrophy and intellectual disability. Previous cases of pathological skeletal fractures in children with known SCN8a mutations have been published but the source of the related skeletal mechanism remains unclear.Presenting problem: The proband presented at 15mo...