title: 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.
authors.affiliation: Department of Paediatrics, Nagasaki University School of Medicine, 1-7-1, Sakamoto-machi, Nagasaki, 852-8501, Japan. kontatsu@net.nagasaki-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Kondoh
authors.forename: M
authors.initials: M
authors.lastname: Yoshinaga
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: T
authors.initials: T
authors.lastname: Takayanagi
authors.forename: M
authors.initials: M
authors.lastname: Uetani
authors.forename: T
authors.initials: T
authors.lastname: Kubota
authors.forename: G
authors.initials: G
authors.lastname: Nishimura
authors.forename: H
authors.initials: H
authors.lastname: Moriuchi
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002574:Cervical Vertebrae / Q000002:abnormalities*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007738:Kyphosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D016133:Polymerase Chain Reaction; D014057:Tomography, X-Ray Computed