Cantú syndrome
| Cantú syndrome | |
|---|---|
| Other names | Hypertrychotic osteochondrodysplasia[1] |
| This photo shows a person with Cantú syndrome, who has coarse facial features that are characteristic of this syndrome. | |
| Symptoms | Cardiomegaly[2] |
| Causes | Mutation in ABCC9 gene[3] |
| Diagnostic method | Echocardiogram, X-ray[4] |
| Treatment | Scoliosis is managed via bracing[5] |
Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.[6][5] Fewer than 50 cases have been described in the literature; they are associated with a mutation in the ABCC9-gene that codes for the ABCC9-protein.[5]
- ^ "OMIM Entry - # 239850 - CANTU SYNDROME". omim.org. Archived from the original on 2019-03-30. Retrieved 2017-04-01.
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kirwas invoked but never defined (see the help page). - ^ a b c Grange, Dorothy K.; Nichols, Colin G.; Singh, Gautam K. (1993-01-01). "Cantú Syndrome and Related Disorders". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 25275207. Archived from the original on 2020-08-13. Retrieved 2017-08-30.Initial posting 2014
- ^ Engels H, Bosse K, Ehrbrecht A, et al. (August 2002). "Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations". Am. J. Med. Genet. 111 (2): 205–9. doi:10.1002/ajmg.10560. PMID 12210352.