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J Med Genet. 1990 April; 27(4): 258–260.
PMCID: PMC1017030

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.


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]
  • Silver HK. Rothmund-Thomson syndrome: an oculocutaneous disorder. Am J Dis Child. 1966 Feb;111(2):182–190. [PubMed]
  • Schinzel A, Biró Z, Schmid W, Hayashi K. Trisomy 8 mosaicism syndrome. Helv Paediatr Acta. 1974 Dec;29(6):531–540. [PubMed]
  • Hall JG, Pagon RA, Wilson KM. Rothmund-Thomson syndrome with severe dwarfism. Am J Dis Child. 1980 Feb;134(2):165–169. [PubMed]
  • Uitto J, Bauer EA, Santa-Cruz DJ, Loewinger RJ, Eisen AZ. Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture. J Invest Dermatol. 1980 Aug;75(2):170–175. [PubMed]
  • TAYLOR WB. Rothmund's syndrome; Thomson's syndrome; congenital poikiloderma with or without juvenile cataracts. AMA Arch Derm. 1957 Feb;75(2):236–244. [PubMed]
  • Starr DG, McClure JP, Connor JM. Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. Clin Genet. 1985 Jan;27(1):102–104. [PubMed]

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