Hutchinson-Gilford Syndrome (progeria) 5
General: Inheritance unknown; belongs to group of ectodermal dysplasias (see 919g65j Werner Syndrome-Progeria of Adults); elevated hyaluronic acid of unknown etiology, likely sporadic dominant mutation.
Ocular: Microphthalmia; hypotrichosis; microcornea; cataract.
Clinical: Appearance of 'old age' in children; short stature to dwarfism; dyscephaly; atrophy of skin and subcutaneous adipose tissue; aplasia of maxilla; oligodontia; arteriosclerosis (premature); progeria.
Brown WT. Progeria: a human-disease model of accelerated aging. Am J Clin Nutr 1992; 55[6 Suppl):1222S-l224S.
Geeraets WJ. Ocular Syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.
Gilford H. On a condition of mixed premature and immature development. Trans Med Chir Soc Edinb 1897; 80:17.
Hutchinson J. Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Trans Med Chir Soc Edinb 1886; 69:473.
Sweeney KJ, Weiss AS. Hyaluronic acid in progeria and the aged phenotype? Gerontology 1992; 38:139-l52.
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