Andrea Superti‐Furga, University of Lausanne, Lausanne, Switzerland
Sheila Unger, The Hospital for Sick Children, Toronto, Ontario, Canada
Published online: January 2006
DOI: 10.1038/npg.els.0005514
The skeletal dysplasias and dysostoses are a group of genetic disorders that manifest as disproportionate short stature, deformity and various medical complications. Dysplasias may result from genetic mutations that affect structural components, metabolic pathways, signal transduction mechanisms or gene expression patterns involved in skeletal growth and development.
Keywords: genetic disease; skeleton; cartilage; short stature; genetic mutations
| References | |
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| Unger SA (2002) A genetic approach to the diagnosis of skeletal dysplasia. Clinical Orthopaedics and Related Research 32–38. | |
| Further Reading | |
| Hermanns P and Lee B (2001) Transcriptional dysregulation in skeletal malformation syndromes. American Journal of Medical Genetics 106: 258–271. | |
| McLean W and Olsen BR (2001) Mouse models of abnormal skeletal development and homeostasis. Trends in Genetics 17: S38–S43. | |
| Pourquie O and Kusumi K (2001) When body segmentation goes wrong. Clinical Genetics 60: 409–416. | |
| book Spranger J, Brill P and Poznanski A (2002) Bone Dysplasias – An Atlas of Genetic Disorders of Skeletal Development. 2nd edn, New York, NY: Oxford University Press. | |
| book Taybi H and Lachman RS (1996) Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias, 4th edn. St Louis, MO: Mosby-Year Book, Inc. | |
| Wilkie AO (1997) Craniosynostosis: genes and mechanisms. Human Molecular Genetics 6: 1647–1656. | |
| Web Links | |
| ePath Achondroplasia (ACH); LocusID: 2261. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2261 | |
| ePath Achondroplasia (ACH); LocusID: 2261. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=860 | |
| ePath Osteogenesis imperfecta (OI); LocusID: 1277, 1278, 12843. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1277,1278,12843 | |
| ePath Pseudoachondroplasia (PSACH); LocusID: 1311. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1311 | |
| ePath Achondroplasia (ACH); MIM number100800. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?100800 | |
| ePath Cleidocranial dysplasia; MIM number 119600. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?119600 | |
| ePath Dyschondrosteosis Léri–Weill; MIM number 127300. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?127300 | |
| ePath Osteogenesis imperfecta (OI); MIM numbers 166200, 166210, 166220, 166240. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?166200,166210,166220,166240 | |
| ePath Pseudoachondroplasia (PSACH); MIM number 177170. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?177170 | |
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