关键词: 罕见病, 喉软骨软化病, 屏气, 基因, 突变, 新生儿护理

Abstract:

To summarize the rescue and care of a case of breath-holding attack caused by congenital contractures of limbs and face，hypotonia，and developmental delay（CLIFAHDD） syndrome. Key points of nursing：early identification and intervention of breath-holding attack in CLIFAHDD syndrome，and implementation of rapid reactive rescue；implementing individualized developmental care measures to avoid stimuli that induce breath-holding attack；paying attention to the assessment of oral feeding ability，strengthening the exercise of oral feeding ability and nutrition management；strengthening perioperative diversified airway management to prevent postoperative complications；the monitoring of early neurological and motor system development，and early start of rehabilitation care；doing a good job in health education for caregivers to help them master the first aid treatment and growth and development assessment methods in the event of a breath-holding attack. After 53 days of hospitalization，the patient was discharged. After being discharged from the hospital for more than 1 month，the patient had breath-holding attack 2~4 times a day. After being discharged from the hospital for more than 2 months，the patient had no breath-holding attack，and only had occasional convulsive seizures during sleep，which could be relieved spontaneously.

Key words: Rare Diseases, Laryngomalacia, Breath Holding, Gene, Mutation, Neonatal Nursing