A PATIENT WHO CHANGED OUR PRACTICEBMJ 1995; 310 doi: https://doi.org/10.1136/bmj.310.6976.372 (Published 11 February 1995) Cite this as: BMJ 1995;310:372
- O R Dearlove,
- W J Wooldridge
Weekends are not for routine cases
Cockayne syndrome is a rare, worldwide, autosomal recessive condition.1 2 It presents most commonly in childhood as a progressive failure of growth and development. Few patients exceed 20 kg in weight or 115 cm in height. Typically the syndrome produces a thin, dwarfed child with deep set eyes, prominent teeth, and a narrow receding chin. The skin is dry, scaly, highly photosensitive, and seems prematurely aged. Neurological impairment is universal owing to generalised brain atrophy. These children are mentally retarded with impaired or absent speech. Mobility is diminished because of a combination of spasticity, ataxia, and limb contractures. Convulsions occur in 5–10% of patients.
Increasing visual loss is expected because of …