{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T13:03:03Z","timestamp":1784034183493,"version":"3.55.0"},"reference-count":10,"publisher":"FapUNIFESP (SciELO)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Einstein (S\u00e3o Paulo)"],"abstract":"<jats:p>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\u2019 medical records were reviewed and patients\u2019 urological status clinically reassessed. At last evaluation patients\u2019 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.<\/jats:p>","DOI":"10.1590\/s1679-45082015rc2990","type":"journal-article","created":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T00:09:55Z","timestamp":1430352595000},"page":"279-282","source":"Crossref","is-referenced-by-count":2,"title":["The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications"],"prefix":"10.1590","volume":"13","author":[{"given":"Atila Victal","family":"Rondon","sequence":"first","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Leslie","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Murillo Bastos","family":"Netto","sequence":"additional","affiliation":[{"name":"Universidade Federal de Juiz de Fora,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo Garcia de","family":"Freitas","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valdemar","family":"Ortiz","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Macedo Junior","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","published-online":{"date-parts":[[2015,5,1]]},"reference":[{"issue":"3","key":"ref1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1002\/ajmg.1320270320","article-title":"Urofacial (ochoa) syndrome","volume":"27","author":"Ochoa B","year":"1987","journal-title":"Am J Med Genet"},{"issue":"4","key":"ref2","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s00431-009-1042-9","article-title":"Ochoa syndrome: a spectrum of urofacial syndrome","volume":"169","author":"Aydogdu O","year":"2010","journal-title":"Eur J Pediatr"},{"issue":"5","key":"ref3","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1590\/S1677-55382005000500012","article-title":"Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure","volume":"31","author":"Nicanor FA","year":"2005","journal-title":"Int Braz J Urol"},{"issue":"1","key":"ref4","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1007\/s00467-003-1291-1","article-title":"Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated","volume":"19","author":"Ochoa B","year":"2004","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"ref5","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/S0022-5347(17)45077-4","article-title":"Nonneurogenic neurogenic bladder (the Hinman syndrome)--15 years later","volume":"136","author":"Hinman Jr F","year":"1986","journal-title":"J Urol"},{"issue":"6","key":"ref6","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/j.ajhg.2010.04.016","article-title":"Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome","volume":"86","author":"Pang J","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"1","key":"ref7","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1111\/j.1399-0004.2011.01649.x","article-title":"First HPSE2 missense mutation in urofacial syndrome","volume":"81","author":"Mahmood S","year":"2012","journal-title":"Clin Genet"},{"issue":"6","key":"ref8","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/j.ajhg.2010.05.006","article-title":"Mutations in HPSE2 cause urofacial syndrome","volume":"86","author":"Daly SB","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"5","key":"ref9","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.jpurol.2011.02.034","article-title":"Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome","volume":"7","author":"Al Badr W","year":"2011","journal-title":"J Pediatr Urol"},{"issue":"7","key":"ref10","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1080\/08860220903003370","article-title":"Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?","volume":"31","author":"Derbent M","year":"2009","journal-title":"Ren Fail"}],"container-title":["Einstein (S\u00e3o Paulo)"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/eins\/v13n2\/1679-4508-eins-1679-45082015RC2990.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,6]],"date-time":"2018-03-06T00:34:27Z","timestamp":1520296467000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S1679-45082015000200020&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,1]]},"references-count":10,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2015,6]]}},"alternative-id":["S1679-45082015000200020"],"URL":"https:\/\/doi.org\/10.1590\/s1679-45082015rc2990","relation":{},"ISSN":["2317-6385","1679-4508"],"issn-type":[{"value":"2317-6385","type":"electronic"},{"value":"1679-4508","type":"print"}],"subject":[],"published":{"date-parts":[[2015,5,1]]}}}