J Korean Radiol Soc.
1990 Feb;26(1):206-209. 10.3348/jkrs.1990.26.1.206.
Cockaynes syndrome: a case report
- KMID: 2359001
- DOI: http://doi.org/10.3348/jkrs.1990.26.1.206
Abstract
- Cockaynes syndrome is rare familial, autosomal recessive disorder. Clinical characteristics are growth andmental retardation. There starts at birth, usually 2nd year of life. Radiological findings are as follows:microcephaly, dense calvarium, and abormal intracranial calcification with hydrocephalus. Skeletal abnormality including slender ribs, decreased height of vertebral bodies and contour abnormality such as narrow medullarycanal in long bone with osteoporosis, small squared pelvis, abnormal sclerotic foci and disequibrium indiaphysio-epiphysis in foot. The authors report a case of cockaynes syndrome with clinical and roentgenologicfindings.
