Medicine:Spondylometaphyseal dysplasia, East-African type
| Spondylometaphyseal dysplasia, East African type | |
|---|---|
| Other names | SMD, East African type |
| Specialty | Medical genetics |
| Symptoms | Bone abnormalities |
| Usual onset | Birth |
| Duration | Life-long |
| Prevention | none |
| Prognosis | Ok-Good |
| Frequency | very rare, only 2 cases have been reported in medical literature |
| Deaths | - |
Spondylometaphyseal dysplasia, East-African type is a rare genetic disorder which is characterized by skeletal abnormalities involving the vertebrae and the metaphysis. Only two isolated cases have been reported.[1]
Description
People with this disorder usually have the following symptoms:[2]
- Severe early-onset metaphyseal dysplasia which makes the metaphyses have the shape of a bracket
- Pelvis dysplasia
- Oval-shaped vertebrae
Etiology
This disorder was first discovered in 2002, by Verloes et al, when they described two un-related patients from East Africa, both of them had additional features such as short-limbed short stature, brachydactyly, etc.[3] to be more specific, one child came from healthy un-related Rwandanese parents and the other child came from healthy un-related parents from Madagascar .[4] They concluded that the patients did not have SMD type A4, but rather a brand new type of SMD.
References
- ↑ "OMIM Entry - 611702 - SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE" (in en-us). https://omim.org/entry/611702#2.
- ↑ Verloes, A.; Lepage, P.; Baumann, C.; Maroteaux, P.; Merrer, M. (2002). "Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.". American Journal of Medical Genetics 113 (4): 362–366. doi:10.1002/AJMG.B.10738. PMID 12457408.
- ↑ Verloes, Alain; Lepage, Philippe; Baumann, Clarisse; Maroteaux, Pierre; Merrer, Martine Le (2002-12-15). "Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae". American Journal of Medical Genetics 113 (4): 362–366. doi:10.1002/ajmg.b.10738. ISSN 0148-7299. PMID 12457408. https://pubmed.ncbi.nlm.nih.gov/12457408/.
- ↑ Verloes, Alain; Lepage, Philippe; Baumann, Clarisse; Maroteaux, Pierre; Merrer, Martine Le (2002). "Spondylometaphyseal dysplasia, east-African Type: A new form of early, severe SMD with rounded vertebrae". American Journal of Medical Genetics 113 (4): 362–366. doi:10.1002/ajmg.b.10738. ISSN 0148-7299. PMID 12457408. https://www.academia.edu/14385891.
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