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Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
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Authors: Maria Leine Guion-Almeida, Siulan Vendramini-Pittoli, Antonio Richieri-Costa
Published Date October 2007
Volume 2007:1(2) Pages 183 - 187
DOI: http://dx.doi.org/10.2147/OPTH.S
Maria Leine Guion-Almeida, Siulan Vendramini-Pittoli, Antonio Richieri-Costa
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil
Abstract: We report on two unrelated Brazilian patients both presenting a very unusual association of ano/microphthalmia, cystic orbital anomaly, atypical clefting, and facial appendages in one patient. Clinical manifestations presented by these patients represent a MCA/MR syndrome of unknown etiology. Considerations about syndromic delineation, genetic aspects, and differential diagnosis are discussed.
Keywords: anophthalmia, microphthalmia, orbital cysts, facial appendages, CNS anomalies
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