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Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.
J Med Genet. 1993 Nov; 30(11):937-41.JM

Abstract

We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to classify them into any one particular type. One of the babies had one of the most radiologically severe SRPS ever published. The patients presented here support the previously reported hypothesis that this group of disorders might be a continuous spectrum rather than separate entities.

Authors+Show Affiliations

ECEMC Coordinating Group, Facultad de Medicina, Universidad Complutense, Madrid, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8301649

Citation

Martínez-Frías, M L., et al. "Lethal Short Rib-polydactyly Syndromes: Further Evidence for Their Overlapping in a Continuous Spectrum." Journal of Medical Genetics, vol. 30, no. 11, 1993, pp. 937-41.
Martínez-Frías ML, Bermejo E, Urioste M, et al. Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum. J Med Genet. 1993;30(11):937-41.
Martínez-Frías, M. L., Bermejo, E., Urioste, M., Huertas, H., & Arroyo, I. (1993). Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum. Journal of Medical Genetics, 30(11), 937-41.
Martínez-Frías ML, et al. Lethal Short Rib-polydactyly Syndromes: Further Evidence for Their Overlapping in a Continuous Spectrum. J Med Genet. 1993;30(11):937-41. PubMed PMID: 8301649.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum. AU - Martínez-Frías,M L, AU - Bermejo,E, AU - Urioste,M, AU - Huertas,H, AU - Arroyo,I, PY - 1993/11/1/pubmed PY - 1993/11/1/medline PY - 1993/11/1/entrez SP - 937 EP - 41 JF - Journal of medical genetics JO - J Med Genet VL - 30 IS - 11 N2 - We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to classify them into any one particular type. One of the babies had one of the most radiologically severe SRPS ever published. The patients presented here support the previously reported hypothesis that this group of disorders might be a continuous spectrum rather than separate entities. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/8301649/Lethal_short_rib_polydactyly_syndromes:_further_evidence_for_their_overlapping_in_a_continuous_spectrum_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=8301649 DB - PRIME DP - Unbound Medicine ER -