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 with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvement of the spine.
M
M
Cirillo Silengo
P
P
Franceschini
R
R
Bianco
M
M
Biagioli
L
L
Pastorin
N
N
Vista
A
A
Baldassar
L
L
Benso
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000000981:diagnostic imaging*; D004392:Dwarfism / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D011859:Radiography