Abstract
Three sibs and their mother with features of a multiple pterygium syndrome are reported. Inheritance in this family is consistent with autosomal dominant inheritance with great variation in severity between affected subjects. The importance of examining other family members closely in cases of multiple pterygium is emphasised.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Carnevale A., López Hernández A., De los Cobos L. Sindrome de Pterigium familiar con probable transmisión dominante ligada al cromosoma. Rev Invest Clin. 1973 Jul-Sep;25(3):237–244. [PubMed] [Google Scholar]
- Escobar V., Bixler D., Gleiser S., Weaver D. D., Gibbs T. Multiple pterygium syndrome. Am J Dis Child. 1978 Jun;132(6):609–611. doi: 10.1001/archpedi.1978.02120310073016. [DOI] [PubMed] [Google Scholar]
- Hall J. G., Reed S. D., Greene G. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Am J Med Genet. 1982 Feb;11(2):185–239. doi: 10.1002/ajmg.1320110208. [DOI] [PubMed] [Google Scholar]
- Hall J. G., Reed S. D., Rosenbaum K. N., Gershanik J., Chen H., Wilson K. M. Limb pterygium syndromes: a review and report of eleven patients. Am J Med Genet. 1982 Aug;12(4):377–409. doi: 10.1002/ajmg.1320120404. [DOI] [PubMed] [Google Scholar]
- Reiss J. A., Sheffield L. J. Distal arthrogryposis type II: a family with varying congenital abnormalities. Am J Med Genet. 1986 Jun;24(2):255–267. doi: 10.1002/ajmg.1320240206. [DOI] [PubMed] [Google Scholar]