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Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report
T Kondoh1, M Yoshinaga, T Matsumoto
1Department of Paediatrics, Nagasaki University School of Medicine, 1-7-1, Sakamoto-machi, Nagasaki, 852-8501, Japan. kontatsu@net.nagasaki-u.ac.jp
Abstract:
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.