Medicine:Mirror polydactyly-vertebral segmentation-limb defects syndrome
From HandWiki
| Mirror polydactyly-vertebral segmentation-limb defects syndrome | |
|---|---|
| Specialty | Medical genetics |
| Frequency | very rare, only 4 cases from 4 families in Spain have been described in medical literature |
| Deaths | - |
Mirror polydactyly-vertebral segmentation-limb defects syndrome is a very rare genetic disorder which is characterized by bilateral symmetrical (mirror) polydactyly, vertebral anomalies and diverse limb deficiencies.[1] It has been described in four un-related patients from Spain , which were brought to medical attention by a program called Spanish Collaborative Study of Congenital Malformations.[2][3]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Mirror polydactyly vertebral segmentation limbs defects syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3004.
- ↑ Urioste, M.; Lorda-Sánchez, I.; Blanco, M.; Burón, E.; Aparicio, P.; Martínez-Frías, M. L. (February 1996). "Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?". Human Genetics 97 (2): 214–217. doi:10.1007/BF02265268. ISSN 0340-6717. PMID 8566956. https://pubmed.ncbi.nlm.nih.gov/8566956/.
- ↑ Martínez-Frías, M. L.; Arroyo, I.; Bermejo, E.; Espinosa, J.; García, M. J. (1997-12-12). "Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: two additional cases that expand the phenotype to a more generalized effect on blastogenesis". American Journal of Medical Genetics 73 (2): 205–209. doi:10.1002/(sici)1096-8628(19971212)73:2<205::aid-ajmg18>3.0.co;2-u. ISSN 0148-7299. PMID 9409874. https://pubmed.ncbi.nlm.nih.gov/9409874/.
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