Hecht J T, Thompson N M, Weir T, Patchell L, Horton W A
Department of Pediatrics, University of Texas Medical School, Houston 77225.
Am J Med Genet. 1991 Nov 1;41(2):208-11. doi: 10.1002/ajmg.1320410215.
Thirteen infants with achondroplasia underwent psychometric testing as part of a comprehensive neurologic assessment. As a group, mental development was average and motor development was delayed, although a wide range of scores was obtained. Foramen magnum measurements were correlated with respiratory dysfunction, abnormal somatosensory evoked potentials, and delayed motor development. Abnormal polysomnogram outcome was associated with reduced mental capacity. In light of the reported increased frequency of respiratory dysfunction in achondroplasia, these findings warrant careful attention and further study.
13名患有软骨发育不全的婴儿接受了心理测量测试，作为全面神经学评估的一部分。尽管得分范围很广，但作为一个群体，智力发育处于平均水平，运动发育延迟。枕骨大孔测量值与呼吸功能障碍、体感诱发电位异常和运动发育延迟相关。多导睡眠图结果异常与智力下降有关。鉴于报道中软骨发育不全患者呼吸功能障碍的发生率增加，这些发现值得密切关注和进一步研究。
