ISSN:
1432-1998
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearence. 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 involvment of the spine.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF02456305
Permalink