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Craniocervical junction issues after infancy in achondroplasia
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-10-26 , DOI: 10.1002/ajmg.a.61941
Cory J Smid 1, 2 , Janet M Legare 1, 3 , Peggy Modaff 1, 3 , Richard M Pauli 1, 3
Affiliation  

More information is available concerning risks of craniocervical junction issues in infancy than at later ages. Therefore, we elected to quantify the risks at greater than 1 year of age through a retrospective analysis of 477 individuals with achondroplasia using a REDCap database. Evaluation of these 477 individuals revealed 77 (16.1%) who had pathologic neurologic manifestations after 1 year of age related to the craniocervical junction. Within this subpopulation of 77 individuals, 43 (55.8%) underwent craniocervical decompression surgery, or 9.0% of the total population. Whether decompressed or not, most individuals with craniocervical junction issues after infancy had a normal outcome, without long‐term neurological sequelae (57/77, 74.0%). The remaining 20 had various long‐term neurological issues. This is the first cohort based estimate of risks related to the upper cervical spine in individuals with achondroplasia specifically beyond infancy.

中文翻译:

婴儿软骨发育不全后的颅颈交界处问题

与婴儿相比,可获得更多有关婴儿颅颈交界处疾病风险的信息。因此,我们选择通过使用REDCap数据库对477名软骨发育不良的个体进行回顾性分析来量化1岁以上的风险。对这477名个体的评估显示,有77名(16.1%)在1岁后出现与颅颈交界处有关的病理性神经系统表现。在这77个亚人群中,有43位(55.8%)接受了颅颈减压手术,占总人口的9.0%。无论是否减压,大多数在婴儿期后出现颅颈交接问题的人均具有正常的预后,没有长期的神经系统后遗症(57 / 77,74.0%)。其余的20个人有各种长期的神经系统问题。
更新日期:2020-12-17
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