Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines.
View Article and Find Full Text PDFThe main objective of this study was to retrospectively evaluate and compare the outcomes and complications of displaced closed tibial fractures in children treated by CRC (closed reduction and casting), elastic stable intramedullary nailing (ESIN) or external fixation (EF). One hundred twenty-three consecutive children were treated for displaced closed tibia shaft fracture from July 2014 and January 2020 at two different institutions. Seventy-five of them met the inclusion criteria and were included in the study: 30 (40%) patients were treated with CRC, 33 (44%) with ESIN, and 12 with EF (16%).
View Article and Find Full Text PDFForamen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and premature closure of skull plate synchondroses can contribute to narrowing. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord, and result in sleep apnoea and sudden death.
View Article and Find Full Text PDFPurpose: This study aimed to assess the real-world management of achondroplasia in Italy.
Methods: Two online surveys addressed to (1) parents/caregivers of individuals with achondroplasia and (2) Italian clinicians managing individuals with achondroplasia were conducted to assess real-world perspectives on achondroplasia management. Both surveys collected data on either patient or clinician demographics, details on diagnoses and referrals, disease complications, and views/experiences with limb lengthening surgery.