Ahmad F U, Mahapatra A K, Mahajan H
Department of Neurosurgery, Neurosciences Centre, All India Institute of Medical sciences, New Delhi, India.
Neurol India. 2006 Mar;54(1):97-9. doi: 10.4103/0028-3886.24721.
Craniometaphyseal dysplasia (CMD) is a rare congenital bone dysplasia with abnormal bony overgrowth leading to characteristic facial features and cranial nerve compression. We present a 10-year-old child with bony swelling at the nasal root since birth along with decreased hearing in both ears. She had normal developmental milestones and intelligence. On examination, she had bossing of forehead with very broad nasal root, short septum, hypertelorism and epicanthic folds. CT scan with 3D reconstruction revealed grossly thickened calvarium and hyperostosis and sclerosis of the cranial base. As the major concern of the parents was cosmetic, craniofacial reconstruction was performed with good cosmetic outcome.
颅骨骨干发育异常(CMD)是一种罕见的先天性骨发育异常,骨质过度生长异常导致特征性面部特征和颅神经受压。我们报告一名10岁儿童,自出生以来鼻根处有骨质肿胀,双耳听力下降。她的发育里程碑和智力正常。检查时,她前额突出,鼻根非常宽,鼻中隔短,眼距增宽和内眦赘皮。三维重建CT扫描显示颅骨明显增厚,颅底骨质增生和硬化。由于家长主要关心的是外观问题,因此进行了颅面重建,美容效果良好。