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

摘要：

总结1例重度喉软骨软化病合并先天性肢体和面部挛缩、肌张力减退和发育迟缓综合征引起屏气发作新生儿的急救与护理。护理要点：早期识别与干预屏气发作，实施快速反应性抢救；避免屏气发作的诱发因素，实施个体化发展性照顾；重视经口喂养能力的评估，加强经口喂养训练和营养管理；强化围手术期气道管理，预防术后并发症；做好照护者的健康宣教，使其掌握屏气发作时的急救处理措施。经过53 d住院治疗，患儿好转出院。出院1个月随访，患儿屏气发作每天2~4次；出院2个月随访，患儿无屏气发作，仅睡眠期间偶有惊厥发作，可自行缓解。

关键词: 罕见病, 喉软骨软化病, 屏气, 基因, 突变, 新生儿护理