An infant with Down syndrome and retinoblastoma A possible non-fortuitous association

Aim: To evaluate the association between Down syndrome and retinoblastoma. Method: Presentation of a case report and review of the literature. Results: A retinoblastoma was observed in a 10-month-old boy with Down syndrome. A review of the literature yielded 14 other cases, suggesting a possible exc...

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Bibliographic Details
Published in:Ophthalmic genetics 2001, Vol.22 (2), p.117-123
Main Authors: Satgé, Daniel, Gembara, Piotr, Sasco, Annie J., Francannet, Christine, Desjardins, Laurence, Vekemans, Michel, Demeocq, François
Format: Article
Language:English
Subjects:
Child
Child, Preschool
Chromosomes, Human, Pair 21
Down Syndrome - complications
Down Syndrome - pathology
Female
Humans
Infant
Magnetic Resonance Imaging
Male
Pedigree
Retinal Neoplasms - complications
Retinal Neoplasms - pathology
Retinoblastoma - complications
Retinoblastoma - pathology
Risk Factors
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Summary:Aim: To evaluate the association between Down syndrome and retinoblastoma. Method: Presentation of a case report and review of the literature. Results: A retinoblastoma was observed in a 10-month-old boy with Down syndrome. A review of the literature yielded 14 other cases, suggesting a possible excess of retinoblastoma in Down syndrome, as previously proposed by two epidemiological studies. The possible roles of external physical agents and hyperplastic and dysplastic lesions of the retina in subjects with Down syndrome is discussed. Conclusion: A positive association between Down syndrome and retinoblastoma is possible. An epidemiological study on this subject is needed to better ascertain this potential link.
ISSN:1381-6810
1744-5094
DOI:10.1076/opge.22.2.117.2229