Bone Abstracts

Background: The co-occurrence of achondroplasia with Trisomy 21 is extremely rare, with only a handful of published case reports in the literature.Presenting Problem: A baby girl had an antenatal diagnosis of incomplete atrioventricular septal defect (AVSD), and a subsequent postnatal diagnosis of Trisomy 21. At birth she had respiratory distress and required CPAP until 5 days of life. AVSD was confirmed on postnatal ECHO. Phenotypic traits consistent wi...

Background: Rickets is a disorder of the growing child arising from impaired mineralisation of the growth plate and osteoid. The most common cause of NR in the UK is thought to be secondary to vitamin D deficiency [VDD; serum 25-hydroxyvitamin D (25OHD) <25 nmol/l], although in some African & South Asian countries dietary calcium deficiency (DCaD) by itself, or together with VDD is an important cause of NR (Ann Trop Paediatr. 2006;26:1–16). Currently, the data on ...

Objectives: Rickets is a disease of growing children with potentially serious short and long-term complications. The United Kingdom (UK) national incidence of Nutritional Rickets(NR) is unknown and thought to be increasing. This study aims to describe the incidence, presentation and clinical management of children with NR in the UK and Republic of Ireland.Methods: Data is being collected prospectively monthly between March 2015 and March 2017 from 3500 p...

Objectives: Nutritional Rickets (NR) is the commonest cause of rickets worldwide. Although the prevalence of rickets has been widely reported to be increasing, the actual national incidence of NR in the United Kingdom (UK) is unknown.Methods: Retrospective data were collected monthly between March 2015 and March 2017 from 3500 consultant paediatricians using British Paediatric Surveillance Unit (BPSU) reporting methodology. Clinicians completed an online...