Pauli R M, Scott C I, Wassman E R, Gilbert E F, Leavitt L A, Ver Hoeve J, Hall J G, Partington M W, Jones K L, Sommer A
J Pediatr. 1984 Mar;104(3):342-8. doi: 10.1016/s0022-3476(84)81092-6.
Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea were discovered through nonsystematic retrospective case collection. Most were initially thought to have died from sudden infant death syndrome. However, historical and pathologic findings suggest that many of these infants had apnea and sudden unexpected death secondary to acute or chronic compression of the lower brainstem or cervical spinal cord. Infants with achondroplasia evidently are at considerably increased risk for such deaths between 1 month and 1 year of age. Appropriate intervention, given these previously unrecognized risks, may include cervical restraint, polysomnographic evaluation, and apnea monitoring.
通过非系统性回顾性病例收集,发现了13例患有软骨发育不全且猝死或不明原因呼吸暂停的婴儿。大多数婴儿最初被认为死于婴儿猝死综合征。然而,病史和病理检查结果表明,这些婴儿中有许多因下脑干或颈脊髓的急性或慢性受压而出现呼吸暂停和猝死。显然,患有软骨发育不全的婴儿在1个月至1岁之间发生此类死亡的风险显著增加。鉴于这些先前未被认识到的风险,适当的干预措施可能包括颈部约束、多导睡眠图评估和呼吸暂停监测。