Mirror polydactyly-vertebral segmentation-limb defects syndrome
(Redirected from Urioste Martinez Frias syndrome)
| 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
[edit]- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Mirror polydactyly vertebral segmentation limbs defects syndrome". www.orpha.net. Retrieved 2022-06-11.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ 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. S2CID 25567969.
- ^ 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.
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