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Short syndrome 1


Short Syndrome 1

General: Autosomal recessive; short stature; hyperextensibili 151j97b ty; hernia; ocular depression; Rieger anomaly; teething delay.

Ocular: Sunken eyes; ocular depression; Rieger syndrome; glaucoma.

Clinical: Short stature; hyperextensibili 151j97b ty of joints; hernia; low birth weight; teething delay; delayed speech development; deafness; diabetes mellitus.

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/.

Schwingshandl J, et al. SHORT syndrome and insulin resistance. Am J Med Genet 1993; 47:907-909.

Sensenbrenner JA, et al. A low birthweight syndrome? Rieger syndrome. Birth Defects 1975; 11:423-426.

Stratton RF, et al. Sibs with growth deficiency delayed bone age, congenital hip dislocation and iridocorneal abnormalities with glaucoma. Am J Med Genet 1989; 32:330-332.




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