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.
Oculocerebral Syndrome with Hypopigmentation (Amish Oculocerebral Syndrome; Cross Syndrome) [...] |
Gitelman Syndrome [...] |
Balint Syndrome (Psychic Paralysis of Visual Fixation Syndrome) General: Bilateral lesion of parietooccipital region; rare occurrence; affecte [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
