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

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.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Kondoh T,Yoshinaga M,Matsumoto T,Takayanagi T,Uetani M,Kubota T,Nishimura G,Moriuchi H

doi

10.1007/s002470100486

keywords:

subject

Has Abstract

pub_date

2001-09-01 00:00:00

pages

659-62

issue

9

eissn

0301-0449

issn

1432-1998

journal_volume

31

pub_type

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