Distinctive skeletal dysplasia in Cockayne syndrome

Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl...

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Bibliographic Details
Published in:Pediatric radiology 1986-03, Vol.16 (3), p.264-266
Main Authors: CIRILLO SILENGO, M, FRANCESCHINI, P, BIANCO, R, BIAGIOLI, M, PASTORIN, L, VISTA, N, BALDASSAR, A, BENSO, L
Format: Article
Language:English
Subjects:
Biological and medical sciences
Bone Diseases, Developmental - diagnostic imaging
Child, Preschool
Cockayne Syndrome - diagnostic imaging
Complex syndromes
Dwarfism - diagnostic imaging
Female
Humans
Medical genetics
Medical sciences
Radiography
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Summary:Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvement of the spine.
ISSN:0301-0449
1432-1998
DOI:10.1007/BF02456305