Medicine:Faciocardiorenal syndrome
From HandWiki
| Faciocardiorenal syndrome | |
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| Other names | Eastman Bixler syndrome[1] |
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| Medical genetics | |
Faciocardiorenal syndrome is a rare genetic disorder characterized by facial dysmorphisms, congenital heart defects, and the presence of a horseshoe kidney, alongside intellectual disabilities.[2] Facial dysmorphisms include protruding ears, narrowing of the mouth, cleft palate, hypertelorism, etc.[3] Only 4 cases from the United States,[4] Northern Ireland,[5] and Mexico[6] have been described in the medical literature.[7] Transmission is, presumably, autosomal recessive.[2]
References
- ↑ "Faciocardiorenal syndrome" (in en-US). June 16, 2022. https://rarediseases.org/gard-rare-disease/faciocardiorenal-syndrome/.
- ↑ 2.0 2.1 "Orphanet: Faciocardiorenal syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973.
- ↑ "Faciocardiorenal syndrome – About the Disease – Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome.
- ↑ Eastman, J. R.; Bixler, D. (June 1977). "Facio-cardio-renal syndrome: a newly delineated recessive disorder". Clinical Genetics 11 (6): 424–430. doi:10.1111/j.1399-0004.1977.tb01339.x. ISSN 0009-9163. PMID 880742. https://pubmed.ncbi.nlm.nih.gov/880742/.
- ↑ Nevin, N. C.; Hill, A. E.; Carson, D. J. (July 1, 1991). "Facio-cardio-renal (Eastman-Bixler) syndrome". American Journal of Medical Genetics 40 (1): 31–33. doi:10.1002/ajmg.1320400106. ISSN 0148-7299. PMID 1887846. https://pubmed.ncbi.nlm.nih.gov/1887846/.
- ↑ Brambila Tapia, A. J. L.; Vásquez Velásque, A. I.; González Mercado, M. G.; Macías Chumacera, A.; Gutierrez-Amavizca, B. E.; Lara Aguilar, R. A.; Pérez Juárez, Canton R.; Moreno Andrade, A. et al. (2012). "Faciocardiorenal syndrome: a wide clinical spectrum?". Genetic Counseling (Geneva, Switzerland) 23 (1): 51–56. ISSN 1015-8146. PMID 22611642. https://pubmed.ncbi.nlm.nih.gov/22611642/.
- ↑ "Entry – 227280 – Faciocardiorenal syndrome – OMIM" (in en-us). https://omim.org/entry/227280#1.
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