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Biemond syndrome   145


Biemond Syndrome   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   &nbs 121g66b p;   145

General: Simple recessive; hypophyseal infantilism.

Ocular: Night blindness in the presence of retinal pigment degeneration; iris coloboma (occasionally); retinal pigmentary degeneration.



Clinical: Mental retardation; polydactyly; genital dystrophia (genital organs may have been arrested in their development; absence of secondary sex characteristics); obesity; hypogenitalism; postaxial polydactyly; hydrocephalus; hypospadias.

Biemond A. Infantilisme Hypophysaire Avec Colobome Irien, Polydactylie et Anomalies Physiques et Sequelettiques. Ned Tijdschr Geneeskd 1934; 78:1801.

Duke-Elder S, ed. System of Ophthalmology, vol. III, part 2. St. Louis: CV Mosby, 1964.

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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