Abstract
This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.
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Selected References
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- FRANCESCHETTI A. Les dysplasies ectodermiques et les syndromes héréditaires apparentés. Dermatologica. 1953;106(3-5):129–156. [PubMed] [Google Scholar]
- Hall J. G., Pagon R. A., Wilson K. M. Rothmund-Thomson syndrome with severe dwarfism. Am J Dis Child. 1980 Feb;134(2):165–169. doi: 10.1001/archpedi.1980.02130140039013. [DOI] [PubMed] [Google Scholar]
- Schinzel A., Biró Z., Schmid W., Hayashi K. Trisomy 8 mosaicism syndrome. Helv Paediatr Acta. 1974 Dec;29(6):531–540. [PubMed] [Google Scholar]
- Silver H. K. Rothmund-Thomson syndrome: an oculocutaneous disorder. Am J Dis Child. 1966 Feb;111(2):182–190. doi: 10.1001/archpedi.1966.02090050114009. [DOI] [PubMed] [Google Scholar]
- Starr D. G., McClure J. P., Connor J. M. Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. Clin Genet. 1985 Jan;27(1):102–104. doi: 10.1111/j.1399-0004.1985.tb00192.x. [DOI] [PubMed] [Google Scholar]
- TAYLOR W. B. Rothmund's syndrome; Thomson's syndrome; congenital poikiloderma with or without juvenile cataracts. AMA Arch Derm. 1957 Feb;75(2):236–244. doi: 10.1001/archderm.1957.01550140080013. [DOI] [PubMed] [Google Scholar]
- Uitto J., Bauer E. A., Santa-Cruz D. J., Loewinger R. J., Eisen A. Z. Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture. J Invest Dermatol. 1980 Aug;75(2):170–175. doi: 10.1111/1523-1747.ep12522586. [DOI] [PubMed] [Google Scholar]