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Osteochondrodysplasia
| Osteochondrodysplasia | |
|---|---|
| Other names | Skeletal dysplasia |
| Specialty | Orthopedic |
An osteochondrodysplasia,[note 1] or skeletal dysplasia, is a disorder of the development of bone and cartilage.[1] Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia.[2] Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine.[3] Skeletal dysplasia can result in marked functional limitation and even mortality.
Osteochondrodysplasias or skeletal dysplasia subtypes can overlap in clinical aspects, therefore plain radiography is absolutely necessary to establish an accurate diagnosis.[4] Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of spinal involvement. As some disorders that cause skeletal dysplasia have treatments available, early diagnosis is particularly important, but may be challenging due to overlapping features and symptoms[5] that may also be common in unaffected children.
Cite error: There are <ref group=note> tags on this page, but the references will not show without a {{reflist|group=note}} template (see the help page).
- ^ "Medcyclopaedia - Osteochondrodysplasia". Archived from the original on 2011-05-26.
- ^ Geister, Krista A.; Camper, Sally A. (2015-01-01). "Advances in Skeletal Dysplasia Genetics". Annual Review of Genomics and Human Genetics. 16 (1): 199–227. doi:10.1146/annurev-genom-090314-045904. PMC 5507692. PMID 25939055.
- ^ Mortier, Geert R.; Cohn, Daniel H.; Cormier-Daire, Valerie; Hall, Christine; Krakow, Deborah; Mundlos, Stefan; Nishimura, Gen; Robertson, Stephen; Sangiorgi, Luca; Savarirayan, Ravi; Sillence, David; Superti-Furga, Andrea; Unger, Sheila; Warman, Matthew L. (2019-10-21). "Nosology and classification of genetic skeletal disorders: 2019 revision". American Journal of Medical Genetics Part A. 179 (12): 2393–2419. doi:10.1002/ajmg.a.61366. hdl:11343/286524. ISSN 1552-4825. PMID 31633310. S2CID 204813822.
- ^ EL-Sobky, TA; Shawky, RM; Sakr, HM; Elsayed, SM; Elsayed, NS; Ragheb, SG; Gamal, R (15 November 2017). "A systematized approach to radiographic assessment of commonly seen genetic bone diseases in children: A pictorial review". J Musculoskelet Surg Res. 1 (2): 25. doi:10.4103/jmsr.jmsr_28_17. S2CID 79825711.
- ^ Cite error: The named reference
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