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Progeria Infantilis

definition

Disorder characterized by retarded physical development and abnormal facies, skeletal abnormalities and the onset of progressive senile degeneration in early childhood. It is probably due to a sporadic autosomal dominant mutation. Rapid ageing with a proportionate dwarfism occurs in the first months of age. Affected children show craniofacial dysmorphy with frontal parietal bossing and micrognathia. The skin is thin and atrophic with loss of subcutaneous fat. Sclerodermoid changes occur on the lower trunk and thighs. The nails are usually small, thin and dystrophic. The sparse scalp hair becomes grey and alopecia develops. The cardiovascular system shows extensive atheroma, and patients usually die before the age of 20 years from coronary artery disease.

synonyms

Progeria Infantilis, Hutchinson-Gilford Syndrome

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