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.
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Received: 10 January 2000 Revised: 3 October 2000 Accepted: 12 October 2000
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Kondoh, T., Yoshinaga, M., Matsumoto, T. et al. Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report. Pediatric Radiology 31, 659–662 (2001). https://doi.org/10.1007/s002470100486
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DOI: https://doi.org/10.1007/s002470100486