Barraquer-Simons syndrome
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| Barraquer-Simons syndrome Classification and external resources |
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| ICD-10 | 272.6 |
|---|---|
| OMIM | 608709 |
| DiseasesDB | 9697 |
Barraquer-Simons syndrome (or acquired partial lipodystrophy) is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax.[1][2]
It is named for Luis Barraquer Roviralta and Arthur Simons.[3][4][5]
There is some evidence tying it to LMNB2.[6]
[edit] See also
[edit] References
- ^ Ferrarini A, Milani D, Bottigelli M, Cagnoli G, Selicorni A (2004). "Two new cases of Barraquer-Simons syndrome". Am. J. Med. Genet. A 126 (4): 427-429. doi:. PMID 15098243.
- ^ Brănişteanu DD, Zbranca E (2000). "Barraquer-Simons syndrome. Report of a case and review of the literature". Revista medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti din Iaş̧i 104 (2): 155-158. PMID 12089983.
- ^ synd/1565 at Who Named It
- ^ L. Barraquer Roviralta. Histoire clinique d'un cas d'atrophie du tissue cellulo-adipeux. Barcelona, 1906.
- ^ A. Simons. Eine seltene Trophoneurose ("Lipodystrophia progressiva"). Zeitschrift für die gesamte Neurologie und Psychiatrie, Berlin, 1911, 5: 29-38.
- ^ Hegele RA, Cao H, Liu DM, et al (2006). "Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy". Am. J. Hum. Genet. 79 (2): 383-389. doi:. PMID 16826530.
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