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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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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cited_by cdi_FETCH-LOGICAL-c352t-731d9a3aa7a298316196e1f15b5f87f659123f58a69a4cebea9233c7414060523
cites cdi_FETCH-LOGICAL-c352t-731d9a3aa7a298316196e1f15b5f87f659123f58a69a4cebea9233c7414060523
container_end_page 123
container_issue 2
container_start_page 117
container_title Ophthalmic genetics
container_volume 22
creator Satgé, Daniel
Gembara, Piotr
Sasco, Annie J.
Francannet, Christine
Desjardins, Laurence
Vekemans, Michel
Demeocq, François
description 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.
doi_str_mv 10.1076/opge.22.2.117.2229
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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
title An infant with Down syndrome and retinoblastoma A possible non-fortuitous association
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