Upington disease: Difference between revisions
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{{Infobox_Disease | {{Infobox_Disease | ||
| Name = Upington disease | | Name = Upington disease | ||
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==Overview== | |||
Upington disease is an extremely rare<ref>{{RareDiseases|5421}}</ref> disease having only one published source claiming its existence on one family in three generations from [[South Africa]].<ref name=NCBI>{{cite journal |author=Schweitzer G, Jones B, Timme A |title=Upington disease: a familial dyschondroplasia |journal=S. Afr. Med. J. |volume=45 |issue=36 |pages=994-1000 |year=1971 |pmid=5316541}}</ref> The disease is characterised by [[hip dysplasia|Perthes-like pelvic anomalies]] (premature closure of the capital femoral epiphyses and widened [[Upper extremity of femur|femoral neck]]s with flattened femoral heads), [[enchondromata]] and [[ecchondromata]]. A [[autosomal dominant]] form of inheritance has been suggested.<ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3408</ref> The name Upington refers to the district of the [[Cape Province]], South Africa where the family originates from.<ref name=NCBI /> | |||
==References== | ==References== | ||
Latest revision as of 17:45, 23 July 2013
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
| Upington disease | |
| ICD-10 | M91.8 |
|---|---|
| ICD-9 | xxx |
| OMIM | 191520 |
Overview
Upington disease is an extremely rare[1] disease having only one published source claiming its existence on one family in three generations from South Africa.[2] The disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. A autosomal dominant form of inheritance has been suggested.[3] The name Upington refers to the district of the Cape Province, South Africa where the family originates from.[2]
References
- ↑ Template:RareDiseases
- ↑ 2.0 2.1 Schweitzer G, Jones B, Timme A (1971). "Upington disease: a familial dyschondroplasia". S. Afr. Med. J. 45 (36): 994–1000. PMID 5316541.
- ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3408