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Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?
Am J Med Genet. 1993 Oct 01; 47(5):782-7.AJ

Abstract

We describe two patients with short rib-polydactyly syndrome (SRPS) from two unrelated Spanish families. These patients present clinical and radiological characteristics that overlap those of the different established types of SRPS. In addition, one patient had anencephaly and the other patient had severe brain abnormalities with a family history of an older sister with anencephaly, and a brother diagnosed with SRPS. This second family is interesting in that the two affected brothers present with different clinical and radiological findings; for example, one had ovoid tibiae and the other did not. This particular family shows that intrafamiliar variation is also observed within SRPS. It remains unsettled whether these cases might be considered a new type of SRPS or a variant of an established entity or whether the differences between the SRPS represent variability or heterogeneity. Molecular studies may answer this question in the near future.

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)

Case Reports
Journal Article

Language

eng

PubMed ID

8267012

Citation

Martínez-Frías, M L., et al. "Short Rib-polydactyly Syndrome (SRPS) With Anencephaly and Other Central Nervous System Anomalies: a New Type of SRPS or a More Severe Expression of a Known SRPS Entity?" American Journal of Medical Genetics, vol. 47, no. 5, 1993, pp. 782-7.
Martínez-Frías ML, Bermejo E, Urioste M, et al. Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity? Am J Med Genet. 1993;47(5):782-7.
Martínez-Frías, M. L., Bermejo, E., Urioste, M., Egüés, J., & López Soler, J. A. (1993). Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity? American Journal of Medical Genetics, 47(5), 782-7.
Martínez-Frías ML, et al. Short Rib-polydactyly Syndrome (SRPS) With Anencephaly and Other Central Nervous System Anomalies: a New Type of SRPS or a More Severe Expression of a Known SRPS Entity. Am J Med Genet. 1993 Oct 1;47(5):782-7. PubMed PMID: 8267012.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity? AU - Martínez-Frías,M L, AU - Bermejo,E, AU - Urioste,M, AU - Egüés,J, AU - López Soler,J A, PY - 1993/10/1/pubmed PY - 1993/10/1/medline PY - 1993/10/1/entrez SP - 782 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 47 IS - 5 N2 - We describe two patients with short rib-polydactyly syndrome (SRPS) from two unrelated Spanish families. These patients present clinical and radiological characteristics that overlap those of the different established types of SRPS. In addition, one patient had anencephaly and the other patient had severe brain abnormalities with a family history of an older sister with anencephaly, and a brother diagnosed with SRPS. This second family is interesting in that the two affected brothers present with different clinical and radiological findings; for example, one had ovoid tibiae and the other did not. This particular family shows that intrafamiliar variation is also observed within SRPS. It remains unsettled whether these cases might be considered a new type of SRPS or a variant of an established entity or whether the differences between the SRPS represent variability or heterogeneity. Molecular studies may answer this question in the near future. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8267012/Short_rib_polydactyly_syndrome__SRPS__with_anencephaly_and_other_central_nervous_system_anomalies:_a_new_type_of_SRPS_or_a_more_severe_expression_of_a_known_SRPS_entity L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=5&spage=782 DB - PRIME DP - Unbound Medicine ER -