Kondoh T, Yoshinaga M, Matsumoto T, Takayanagi T, Uetani M, Kubota T, Nishimura G, Moriuchi H
Department of Paediatrics, Nagasaki University School of Medicine, 1-7-1, Sakamoto-machi, Nagasaki, 852-8501, Japan.
Pediatr Radiol. 2001 Sep;31(9):659-62. doi: 10.1007/s002470100486.
We report a 29-month-old girl with osteopathia striata with cranial sclerosis (OS-CS), who showed several unusual manifestations, including short stature, muscular hypotonia, short lingual frenulum, an accessory ear and a granuloma at the oral edge. The most unusual distressing finding was severe cervical kyphosis with a dysplastic cervical spine. MRI revealed impingement of the upper spinal cord. To clarify the mode of inheritance of this disease in this patient, we performed a methylation-specific PCR analysis. It eventually showed random inactivation of X-chromosomes, suggesting an autosomal dominant trait.
我们报告了一名患有条纹状骨病伴颅骨硬化（OS-CS）的29个月大女孩，她表现出几种不寻常的症状，包括身材矮小、肌张力减退、舌系带过短、附耳和口腔边缘肉芽肿。最不寻常且令人苦恼的发现是严重的颈椎后凸伴颈椎发育异常。MRI显示上脊髓受压。为了明确该疾病在这名患者中的遗传模式，我们进行了甲基化特异性PCR分析。最终结果显示X染色体随机失活，提示为常染色体显性特征。
