[Rare observation of hyperostotic cranial lesions in osteogenesis imperfecta].
A rare case of hyperostotic skull deformity in a patient with congenital bone defect--osteogenesis imperfecta--is described. In this case typical symptoms encountered in adults were observed: decreased body length caused by shortened extremities due to multiple pathological fractures in childhood, deformities of thorax, spine, facial bones and teeth, skull lesions with craniobasal and brainstem symptoms, bluish hue of sclera, hypoacusis etc.). In this patient non-typical abnormalities were found: visual deficit due to optic nerve atrophy caused by bilateral optic canal stenosis on the background of densitometrically proven hyperostotic skull base deformity.
Kadasheva
A B
AB
Cherekaev
V A
VA
Arutiunov
N V
NV
Galkin
M V
MV
D000328:Adult; D005260:Female; D006801:Humans; D015576:Hyperostosis / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000294:innervation; D014057:Tomography, X-Ray Computed; D055815:Young Adult