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Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report

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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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Authors and Affiliations

  1. Department of Paediatrics, Nagasaki University School of Medicine, 1–7-1, Sakamoto-machi, Nagasaki, 852–8501, Japan. kontatsu@net.nagasaki-u.ac.jp, , , , , , JP

    T. Kondoh & Hiroyuki Moriuchi

  2. Department of Paediatrics, Nagasaki Chuo National Hospital, Nagasaki, Japan, , , , , , JP

    Muneyoshi Yoshinaga & Toshimitsu Takayanagi

  3. School of Allied Medical Sciences, Nagasaki University, Nagasaki, Japan, , , , , , JP

    Tadashi Matsumoto

  4. Department of Radiology, Nagasaki University School of Medicine, Nagasaki, Japan, , , , , , JP

    Masataka Uetani

  5. Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, , , , , , JP

    Takeo Kubota

  6. Nishitama Hospital, Tokyo, Japan, , , , , , JP

    Gen Nishimura

Authors
  1. T. Kondoh
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  2. Muneyoshi Yoshinaga
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  3. Tadashi Matsumoto
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  4. Toshimitsu Takayanagi
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  5. Masataka Uetani
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  6. Takeo Kubota
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  7. Gen Nishimura
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  8. Hiroyuki Moriuchi
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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

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