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Associated congenital malformations in retinoblastoma
Author(s) -
BonaïtiPellié C.,
BriardGuillemot M. L.,
Feingold J.,
Frézal J.
Publication year - 1975
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1975.tb00360.x
Subject(s) - retinoblastoma , congenital malformations , medicine , population , congenital disease , pediatrics , biology , genetics , pregnancy , surgery , environmental health , gene
A complete family investigation was made for 598 cases of retinoblastoma and details of any associated congenital malformations were recorded. Associated malformations were found in seven cases, four of which were cleft palate. There was a highly significant difference between the frequency of cleft palate in our cases with retinoblastorna and the frequency in the general population. This result supports the hypothesis that cases of retinoblastoma with associated congenital malformations are caused by germinal mutations.