title: Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients.
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.
authors: Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.
authors: Maria Leine
authors: ML
authors: Guion-Almeida
authors: Siulan
authors: S
authors: Vendramini-Pittoli
authors: Antonio
authors: A
authors: Richieri-Costa