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

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. Consid...

Descripción completa

Detalles Bibliográficos
Autores principales: Guion-Almeida, Maria Leine, Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio
Formato: Texto
Lenguaje:English
Publicado: Dove Medical Press 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2704508/
https://www.ncbi.nlm.nih.gov/pubmed/19668508
_version_ 1782168932923211776
author Guion-Almeida, Maria Leine
Vendramini-Pittoli, Siulan
Richieri-Costa, Antonio
author_facet Guion-Almeida, Maria Leine
Vendramini-Pittoli, Siulan
Richieri-Costa, Antonio
author_sort Guion-Almeida, Maria Leine
collection PubMed
description 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.
format Text
id pubmed-2704508
institution National Center for Biotechnology Information
language English
publishDate 2007
publisher Dove Medical Press
record_format MEDLINE/PubMed
spelling pubmed-27045082009-08-10 Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients Guion-Almeida, Maria Leine Vendramini-Pittoli, Siulan Richieri-Costa, Antonio Clin Ophthalmol Case Report 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. Dove Medical Press 2007-06 /pmc/articles/PMC2704508/ /pubmed/19668508 Text en © 2007 Dove Medical Press Limited. All rights reserved
spellingShingle Case Report
Guion-Almeida, Maria Leine
Vendramini-Pittoli, Siulan
Richieri-Costa, Antonio
Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
title Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
title_full Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
title_fullStr Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
title_full_unstemmed Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
title_short Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
title_sort ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. diagnostic considerations on 2 brazilian patients
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2704508/
https://www.ncbi.nlm.nih.gov/pubmed/19668508
work_keys_str_mv AT guionalmeidamarialeine anomicrophthalmiaocularcystscentralnervoussystemmalformationsandneuropsychologicaldelaydiagnosticconsiderationson2brazilianpatients
AT vendraminipittolisiulan anomicrophthalmiaocularcystscentralnervoussystemmalformationsandneuropsychologicaldelaydiagnosticconsiderationson2brazilianpatients
AT richiericostaantonio anomicrophthalmiaocularcystscentralnervoussystemmalformationsandneuropsychologicaldelaydiagnosticconsiderationson2brazilianpatients

Ejemplares similares