Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients

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