Bone Abstracts

Skeletal dysplasia is a heterogeneous group of more than 450 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal modelling of the skeleton and disproportion of the long bones, spine, and head. It affects an estimated 1 in every 4000–5000 live births. Pathogenic variants in genes encoding proteins key in skeletal growth and development underlie skeletal dysplasia. These genes express proteins involved in cartilage extracellular matr...

Biographical DetailsDr Melita IrvingDr Melita Irving is a consultant in clinical genetics and joint head of service at Guy’s and St Thomas’ Hospital NHS Foundation Trust with the Evelina London Children’s Hospital. She is a trained general geneticist and sub-specialises in skeletal dysplasia, particularly achondroplasia and other gene...

Objectives: • To establish the child and family experience of attending multi-disciplinary clinics within the rare bone disease service at Evelina London Children’s Hospital.• To gain an understanding of the daily challenges the children, young people and families face.• To understand how the tertiary multi-disciplinary team may support the child, young person and family.<p class="ab...

Objectives: Respiratory and Ear, Nose and Throat (ENT) complications are commonly reported in children with achondroplasia but little data is available regarding prevalence and outcome. In an unselected cohort of children with achondroplasia, we studied the prevalence of:•Abnormal cardiorespiratory sleep studies•Speech and hearing impairment</ce:p...

Achondroplasia is the commonest form of dwarfism. Key features in infancy impacting positioning are rhizomelia, spinal deformities and large head size. Both standard high chairs and specialized adaptive seating are currently inadequate to meet the needs of these infants. This is due to their anatomical limitations and the guidance for supportive positioning in this group of children, which recommend that a flat, elongated spine is optimal, avoiding a ‘C shape’, as is...