Abstract
In 1963 Rubinstein and Taybi described, in seven children, a new symptom-complex characterized by broad thumbs and great toes, facial abnormalities, mental retardation and a cluster of congenital malformations. Since then 14 additional cases have been reported. In this paper three more such children are described. Chromosome studies were normal. The etiology of this disorder is unknown but it is probably genetic.
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.
- HARTOG M., GAAFAR M. A., MEISSER B., FRASER R. IMMUNOASSAY OF SERUM GROWTH HORMONE IN ACROMEGALIC PATIENTS. Br Med J. 1964 Nov 14;2(5419):1229–1232. doi: 10.1136/bmj.2.5419.1229. [DOI] [PMC free article] [PubMed] [Google Scholar]
- RUBINSTEIN J. H., TAYBI H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963 Jun;105:588–608. doi: 10.1001/archpedi.1963.02080040590010. [DOI] [PubMed] [Google Scholar]
- Robinson G. C., Miller J. R., Cook E. G., Tischler B. Broad thumbs and toes and mental retardation. Unusual dermatoglyphic observations in two individuals. Am J Dis Child. 1966 Mar;111(3):287–290. doi: 10.1001/archpedi.1966.02090060097011. [DOI] [PubMed] [Google Scholar]