There are limited data on the longitudinal frequency and severity of the symptoms and complications of achondroplasia. We undertook a retrospective electronic chart review of 114 patients to develop a more thorough understanding of the lifetime impact of achondroplasia. Craniocervical stenosis (involving the foramen magnum with or without cervical vertebrae C1 and/or C2) was noted in nearly 50% of patients with craniovertebral junction imaging; however, corrective decompression surgery was only needed in 6% of patients. No children in our cohort died at 4 years of age or under. Kyphosis was present in most patients but usually resolved in early childhood. Cervical and lumbar stenosis were diagnosed in children and adults while, genu varum, elbow contractures, and radial head dislocations were identified during childhood. Central sleep apnea and obstructive sleep apnea were present in children, while the diagnosis of obstructive sleep apnea was shown to recur in adulthood. Cardiovascular risk factors were present in only 7% of patients. A range of mental health disorders were identified, with most diagnoses being made before 18 years of age. Our data show that achondroplasia has a significant impact on patients' physical health, and complications continue to be reported and require intervention throughout patients' lifetimes. This highlights the need for continuous support beyond pediatric care, by adult care clinicians experienced with managing the long‐term complications of achondroplasia.

中文翻译：

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软骨发育不全的自然史：对纵向临床数据的回顾性回顾。

关于软骨发育不良的症状和并发症的纵向频率和严重程度的数据有限。我们对114名患者进行了回顾性电子图表审查，以更全面地了解软骨发育不良的终生影响。在近50％的颅-椎交界处成像患者中发现了颅颈狭窄（累及大孔并伴或不伴有颈椎C1和/或C2）；但是，只有6％的患者需要进行减压矫正手术。我们队列中没有儿童在4岁或4岁以下死亡。大多数患者都存在脊柱后凸，但通常在儿童早期就可以治愈。在儿童和成人中诊断出颈椎和腰椎管狭窄，而在儿童期发现膝内翻，肘关节挛缩和radial骨头脱位。儿童存在中枢性睡眠呼吸暂停和阻塞性睡眠呼吸暂停，而阻塞性睡眠呼吸暂停的诊断在成年后可再次出现。仅有7％的患者存在心血管危险因素。确定了一系列精神健康障碍，大多数诊断是在18岁之前做出的。我们的数据表明，软骨发育不全对患者的身体健康有重大影响，并且并发症一直有报道，并且需要在患者一生中进行干预。这突显了在处理软骨发育不良的长期并发症方面经验丰富的成人护理临床医生需要除儿科护理之外的持续支持。仅有7％的患者存在心血管危险因素。确定了一系列精神健康障碍，大多数诊断是在18岁之前做出的。我们的数据表明，软骨发育不全对患者的身体健康有重大影响，并且并发症一直有报道，并且需要在患者一生中进行干预。这突显了在处理软骨发育不良的长期并发症方面经验丰富的成人护理临床医生需要除儿科护理之外的持续支持。仅有7％的患者存在心血管危险因素。确定了一系列精神健康障碍，大多数诊断是在18岁之前做出的。我们的数据表明，软骨发育不全对患者的身体健康有重大影响，并且并发症一直有报道，并且需要在患者一生中进行干预。这突显了在处理软骨发育不良的长期并发症方面经验丰富的成人护理临床医生需要除儿科护理之外的持续支持。一生。这突显了在处理软骨发育不良的长期并发症方面经验丰富的成人护理临床医生需要除儿科护理之外的持续支持。一生。这突显了在处理软骨发育不良的长期并发症方面经验丰富的成人护理临床医生需要除儿科护理之外的持续支持。