Background and Aims We aim to analyse the clinical characteristics of OI within a 10 year regional birth cohort in Ireland and to highlight the management challenges and the need for a National level referral and treatment structure.
Methods Case notes of all patients with OI from 2002 to 2011 were reviewed for clinical characteristics, radiological findings, results of molecular genetics and the comprehensive management including treatment received abroad.
Results Case1: Female type III OI born by caesarean section at term noticed to have several fractures in-utero and infancy; now 10 years with short stature & respiratory problems.
Case2: Male type IV OI, born by CS at term. Multiple antenatal fractures noted on postnatal skeletal survey. Presently 6 years old.
Case3: Male type III OI, presented at birth with multiple fractures, and significant ligamentous laxity. Presently 4 years old.
Case4: Female type V OI, born by CS at term. Diagnosed at 9 weeks when presented with fractures. Developed subsequent crush fractures of vertebrae despite being on pamidronate infusions; presently 3 years old.
Case5: Female type IV OI, born by CS at term with antenatal suspicion of skeletal dysplasia. Presently 2 years old with associated developmental delay.
Case6: Male type IV OI, followed up since 27 weeks gestation and intrauterine death following the development of non-immune hydrops at 34 wks.
Conclusion As more children are surviving nationally there is a need for a single specialised and comprehensive paediatric metabolic bone diseases unit providing a structured quality of care and avoiding travel abroad.