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The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications
Ochoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Patients’ medical records were reviewed and pati...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Instituto de Ensino e Pesquisa Albert Einstein
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943824/ https://www.ncbi.nlm.nih.gov/pubmed/25946049 http://dx.doi.org/10.1590/S1679-45082015RC2990 |
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author | Rondon, Atila Victal Leslie, Bruno Netto, José Murillo Bastos de Freitas, Ricardo Garcia Ortiz, Valdemar Macedo, Antonio |
author_facet | Rondon, Atila Victal Leslie, Bruno Netto, José Murillo Bastos de Freitas, Ricardo Garcia Ortiz, Valdemar Macedo, Antonio |
author_sort | Rondon, Atila Victal |
collection | PubMed |
description | Ochoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Patients’ medical records were reviewed and patients’ urological status clinically reassessed. At last evaluation patients’ mean age was 15.5 years, and age ranged from 12 to 32 years. Mean follow-up was 35 months (12 to 60). Initial symptoms were urinary tract infections in four patients (67%) associated with enuresis and incontinence in three of them (50%). One patient had only urinary tract infection and two lower urinary tract symptoms without infections. Initial treatment consisted of clean intermittent catheterization with anticholinergics for all patients. Four patients (67%) were submitted to bladder augmentation. Two patients had end-stage renal disease during follow-up, one received kidney transplantation and one patient remained on the waiting list for a renal transplantation. Familial consanguinity was present in only one case. This significant condition is rare, but it must be recognized by pediatricians, nephrologists and urologists in order to institute early aggressive urological treatment. |
format | Online Article Text |
id | pubmed-4943824 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Instituto de Ensino e Pesquisa Albert Einstein |
record_format | MEDLINE/PubMed |
spelling | pubmed-49438242016-08-10 The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications Rondon, Atila Victal Leslie, Bruno Netto, José Murillo Bastos de Freitas, Ricardo Garcia Ortiz, Valdemar Macedo, Antonio Einstein (Sao Paulo) Case Report Ochoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Patients’ medical records were reviewed and patients’ urological status clinically reassessed. At last evaluation patients’ mean age was 15.5 years, and age ranged from 12 to 32 years. Mean follow-up was 35 months (12 to 60). Initial symptoms were urinary tract infections in four patients (67%) associated with enuresis and incontinence in three of them (50%). One patient had only urinary tract infection and two lower urinary tract symptoms without infections. Initial treatment consisted of clean intermittent catheterization with anticholinergics for all patients. Four patients (67%) were submitted to bladder augmentation. Two patients had end-stage renal disease during follow-up, one received kidney transplantation and one patient remained on the waiting list for a renal transplantation. Familial consanguinity was present in only one case. This significant condition is rare, but it must be recognized by pediatricians, nephrologists and urologists in order to institute early aggressive urological treatment. Instituto de Ensino e Pesquisa Albert Einstein 2015 /pmc/articles/PMC4943824/ /pubmed/25946049 http://dx.doi.org/10.1590/S1679-45082015RC2990 Text en http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Rondon, Atila Victal Leslie, Bruno Netto, José Murillo Bastos de Freitas, Ricardo Garcia Ortiz, Valdemar Macedo, Antonio The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
title | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
title_full | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
title_fullStr | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
title_full_unstemmed | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
title_short | The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
title_sort | ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943824/ https://www.ncbi.nlm.nih.gov/pubmed/25946049 http://dx.doi.org/10.1590/S1679-45082015RC2990 |
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