Donohue’s Syndrome - Leprechaunism - Cockayne’s Syndrome

摘要

A pair of sibs is reported with severe growth retardation since infancy, lack of subcutaneous fat, aged appearance, severe mental retardation with possibly a progressive dementia and evidence of peripheral polyneuropathy. The correct labelling of this disorder is discussed in relation to cases previously reported under the heading of Donohue’s syndrome or leprechaunism or under the heading of Cockayne’s syndr