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Arq. bras. oftalmol ; 81(5): 440-442, Sept.-Oct. 2018. graf
Article in English | LILACS | ID: biblio-950495

ABSTRACT

ABSTRACT We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.


RESUMO Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante de baixa acuidade visual associado à distrofia retiniana em ambos os olhos associado à alopecia e alterações ósseas ou sindactilia.


Subject(s)
Humans , Female , Child , Adolescent , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/diagnostic imaging , Hand Deformities, Congenital/genetics , Hand Deformities, Congenital/diagnostic imaging , Consanguinity , Macular Degeneration/congenital , Siblings , Macular Degeneration/genetics , Macular Degeneration/diagnostic imaging
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