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Bamatter syndrome (osteoplastic geroderma; walt disney dwarfism)


Bamatter Syndrome (Osteoplastic Geroderma; Walt Disney Dwarfism)

General: Hereditary X-linked; rare; onset in early childhood; precocious aging; osteoporosis; autosomal recessive inheritance. 545e49f

Ocular: Glaucoma; microphthalmia; microcornea; corneal opacities.

Clinical: Senile changes in skin; stunted growth; articular hypertrophy; multiple fractures and bone malformations; osteodysplasia; osteoporosis; dwarfism.

Bamatter F. Gerodermic ostheodysplastique hereditaire. Ann Pediatr 1950; 174:126-l27.

Hunter AGW. Is geroderma osteodysplastica underdiagnosed? J Med Genet 1988; 25:854-857.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.





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