MORBIDITY AND MORTALITY IN ACHONDROPLASIA

软骨发育不全的发病率和死亡率

• 批准号: 3784607
• 负责人: CLAIR A FRANCOMANO
• 金额: --
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3784607
• 关键词: achondroplasia; brain imaging /visualization /scanning; child (0-11); evoked potentials; genetic markers; human morbidity; human mortality; human subject; magnetic resonance imaging; medical complication; nervous system disorder; respiratory disorder; sleep disorders

This study is designed to investigate neurologic and respiratory causes of morbidity and mortality in children with achondroplasia. Magnetic resonance imaging of the brain and foramen magnum, sleep study, somatosensory evoked responses and developmental assessments are performed on all subjects. In addition, we are seeking to identify the genetic locus which causes achondroplasia.

本研究旨在探讨神经系统和呼吸系统的病因