Article
Cockayne syndrome: review of 140 cases.
American journal of medical genetics - 1 Jan 1992
Nance M A, Berry S A
Abstract excerpt
To define diagnostic criteria for Cockayne Syndrome (CS) and to identify in detail the complications of the condition, a comprehensive review of 140 cases of CS was performed. Criteria required for the diagnosis include poor growth and neurologic abnormality; other very common manifestations incl...
Topics
- Adult
- Child
- Child, Preschool
- Cockayne Syndrome
- DNA Repair
- Dental Caries
- Endocrine System Diseases
- Eye Diseases
- Female
- Growth Disorders
- Hearing Loss, Sensorineural
- Humans
- Kidney Diseases
- Male
- Nervous System Diseases
- Phenotype
- Skin Diseases