Coomaralingam Sivaroopi, Roth Philip
Staten Island University Hospital, Staten Island, NY 10305, USA.
J Craniofac Surg. 2012 May;23(3):e209-11. doi: 10.1097/SCS.0b013e31824de344.
Apert syndrome is a rare congenital disorder characterized by irregular craniosynostosis especially of the coronal suture. We report a case of Apert syndrome confirmed by molecular genetic analysis in a newborn infant, who did not have craniosynostosis at birth. Because this disturbance in osteogenesis may vary in timing and extent, we suggest that this diagnosis be considered even in the absence of this hallmark finding.
Apert综合征是一种罕见的先天性疾病,其特征为颅骨缝早闭,尤其是冠状缝。我们报告了一例经分子遗传学分析确诊的新生儿Apert综合征病例,该婴儿出生时并无颅骨缝早闭。由于这种成骨障碍在时间和程度上可能有所不同,因此我们建议即使没有这一标志性表现,也应考虑该诊断。