Hubbard Bradley A, Gorski Jerome L, Muzaffar Arshad R
Cleft Palate Craniofac J. 2011 Sep;48(5):631-5. doi: 10.1597/09-266. Epub 2010 Sep 14.
Isolated, premature fusion of the frontosphenoidal suture is rare. This report describes an unusual combination of frontosphenoidal craniosynostosis and achondroplasia. Although craniosynostosis is known to occur in allelic conditions such as thanatophoric dysplasia, craniosynostosis in individuals with achondroplasia is exceedingly rare. Due to the distracting diagnosis of achondroplasia or inadequate knowledge of craniosynostosis, the abnormal head shape was initially treated by other physicians with helmet molding. Plastic surgery consultation was obtained at 2 years of age and surgical care was provided. An acceptable head shape was obtained, but the delay in appropriate evaluation was disconcerting. To our knowledge this is the first reported case of isolated frontosphenoidal craniosynostosis associated with achondroplasia.
额蝶缝孤立性过早融合较为罕见。本报告描述了额蝶缝颅骨缝早闭与软骨发育不全的一种不寻常组合。虽然已知颅骨缝早闭会在致死性骨发育不良等等位基因疾病中出现,但软骨发育不全个体出现颅骨缝早闭极为罕见。由于软骨发育不全的干扰性诊断或对颅骨缝早闭的认识不足,异常头型最初由其他医生采用头盔塑形进行治疗。患儿2岁时咨询了整形外科并接受了手术治疗。获得了可接受的头型,但适当评估的延迟令人不安。据我们所知,这是首例报道的与软骨发育不全相关的孤立性额蝶缝颅骨缝早闭病例。