Tags

Type your tag names separated by a space and hit enter

The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome.
Am J Med Genet. 1983 Oct; 16(2):213-24.AJ

Abstract

We report on five cases of lethal Pena-Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pena-Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena-Shokeir syndrome.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

6650566

Citation

Chen, H, et al. "The Pena-Shokeir Syndrome: Report of Five Cases and Further Delineation of the Syndrome." American Journal of Medical Genetics, vol. 16, no. 2, 1983, pp. 213-24.
Chen H, Blumberg B, Immken L, et al. The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. Am J Med Genet. 1983;16(2):213-24.
Chen, H., Blumberg, B., Immken, L., Lachman, R., Rightmire, D., Fowler, M., Bachman, R., & Beemer, F. A. (1983). The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. American Journal of Medical Genetics, 16(2), 213-24.
Chen H, et al. The Pena-Shokeir Syndrome: Report of Five Cases and Further Delineation of the Syndrome. Am J Med Genet. 1983;16(2):213-24. PubMed PMID: 6650566.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. AU - Chen,H, AU - Blumberg,B, AU - Immken,L, AU - Lachman,R, AU - Rightmire,D, AU - Fowler,M, AU - Bachman,R, AU - Beemer,F A, PY - 1983/10/1/pubmed PY - 1983/10/1/medline PY - 1983/10/1/entrez SP - 213 EP - 24 JF - American journal of medical genetics JO - Am J Med Genet VL - 16 IS - 2 N2 - We report on five cases of lethal Pena-Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pena-Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena-Shokeir syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6650566/The_Pena_Shokeir_syndrome:_report_of_five_cases_and_further_delineation_of_the_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=16&issue=2&spage=213 DB - PRIME DP - Unbound Medicine ER -