Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
نویسندگان
چکیده
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.
منابع مشابه
Winston Churchill and peer review
Welcome to the second edition of Clinical Ophthalmology. Once again, this edition refl ects the diversity of ophthalmology from basic science to state of the art clinical care. Colleagues in other specialties often ask me how I can maintain my interest in such a 'small' speciality but those of us who deal with the eye and its diseases, rather than knowing everything, are eternally humbled by ho...
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