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Trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of the retina (oliver mcfarlane syndrome)


Trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of the retina (oliver mcfarlane syndrome)

Trichomegaly with Mental Retardation, Dwarfism, and Pigmentary Degeneration of the Retina
(Oliver McFarlane Syndrome) 242d32c 242d32c 242d32c 242d32c 242d32c

General: Autosomal recessive.

Ocular: Excessive growth of eyelashes and brow hair; pigmentary degeneration of retina; horizontal nystagmus; bilateral choroidoretinal pigmentary degeneration; ring heterochromia of the iris.

Clinical: Bulging of occipital and frontal bones; low birth weight; dwarfism; cryptorchidism; underdevelopment of penis; frontal alopecia.

Delleman JW, Van Walbeek K. The syndrome of trichomegaly, tapetoretinal degeneration and growth disturbances. Ophthalmologica 1975; 171:313-315.

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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imagine cu retinaimagine cu retina imagini retinaimagini/poza retina


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