Literature DB >> 19669792

Ochoa syndrome: a spectrum of urofacial syndrome.

Ozgu Aydogdu1, Berk Burgu, Fuat Demirel, Tarkan Soygur, Zeynep Birsin Ozcakar, Fatos Yalcinkaya, Serdar Tekgul.   

Abstract

The urofacial syndrome, also known as Ochoa syndrome, is a rare autosomal recessive condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems due to a dysfunctional bladder. We report 11 patients with urofacial syndrome in five families from Turkey with a median follow up of 32 months (range, 2-44 months).

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Year:  2009        PMID： 19669792     DOI： 10.1007/s00431-009-1042-9

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  6 in total

1.  Three new European cases of urofacial (Ochoa) syndrome.

Authors:  S Garcia-Minaur; F Oliver; J M Yanez; J R Soriano; F Quinn; W Reardon
Journal:  Clin Dysmorphol       Date:  2001-07       Impact factor: 0.816

2.  Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure.

Authors:  Francisco A Nicanor; Anthony Cook; Joao L Pippi-Salle
Journal:  Int Braz J Urol       Date:  2005 Sep-Oct       Impact factor: 1.541

3.  Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".

Authors:  B R Elejalde
Journal:  Am J Med Genet       Date:  1979

4.  Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

Authors:  X Chauve; C Missirian; P Malzac; L Girardot; J M Guys; C Louis; N Philip; M A Voelckel
Journal:  Am J Med Genet       Date:  2000-11-06

5.  Urofacial (ochoa) syndrome.

Authors:  B Ochoa; R J Gorlin
Journal:  Am J Med Genet       Date:  1987-07

Review 6.  Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated.

Authors:  Bernardo Ochoa
Journal:  Pediatr Nephrol       Date:  2003-11-25       Impact factor: 3.714
  6 in total
  11 in total

1.  An adolescent boy progressing insidiously to end-stage renal disease: Answers.

Authors:  Aysun Çaltık Yılmaz; Bahar Buyukkaragoz; Selcuk Kivilcim; Aslı Celebi Tayfur; Sacit Gunbey
Journal:  Pediatr Nephrol       Date:  2017-06-19       Impact factor: 3.714

Review 2.  Genetics of vesicoureteral reflux.

Authors:  Prem Puri; Jan-Hendrik Gosemann; John Darlow; David E Barton
Journal:  Nat Rev Urol       Date:  2011-08-23       Impact factor: 14.432

Review 3.  Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.

Authors:  Adrian S Woolf; Helen M Stuart; Neil A Roberts; Edward A McKenzie; Emma N Hilton; William G Newman
Journal:  Pediatr Nephrol       Date:  2013-07-09       Impact factor: 3.714

4.  Mutations in HPSE2 cause urofacial syndrome.

Authors:  Sarah B Daly; Jill E Urquhart; Emma Hilton; Edward A McKenzie; Richard A Kammerer; Malcolm Lewis; Bronwyn Kerr; Helen Stuart; Dian Donnai; David A Long; Berk Burgu; Ozgu Aydogdu; Murat Derbent; Sixto Garcia-Minaur; Willie Reardon; Blanca Gener; Stavit Shalev; Rupert Smith; Adrian S Woolf; Graeme C Black; William G Newman
Journal:  Am J Hum Genet       Date:  2010-06-11       Impact factor: 11.025

5.  Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

Authors:  Junfeng Pang; Shu Zhang; Ping Yang; Bobbilynn Hawkins-Lee; Jixin Zhong; Yushan Zhang; Bernardo Ochoa; Jose A G Agundez; Marie-Antoinette Voelckel; Richard B Fisher; Weikuan Gu; Wen-Cheng Xiong; Lin Mei; Jin-Xiong She; Cong-Yi Wang
Journal:  Am J Hum Genet       Date:  2010-06-11       Impact factor: 11.025

6.  Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Authors:  Glenda M Beaman; Filipa M Lopes; Aybike Hofmann; Wolfgang Roesch; Martin Promm; Emilia K Bijlsma; Chirag Patel; Aykut Akinci; Berk Burgu; Jeroen Knijnenburg; Gladys Ho; Christina Aufschlaeger; Sylvia Dathe; Marie Antoinette Voelckel; Monika Cohen; Wyatt W Yue; Helen M Stuart; Edward A Mckenzie; Mark Elvin; Neil A Roberts; Adrian S Woolf; William G Newman
Journal:  Front Genet       Date:  2022-06-23       Impact factor: 4.772

7.  LRIG2 mutations cause urofacial syndrome.

Authors:  Helen M Stuart; Neil A Roberts; Berk Burgu; Sarah B Daly; Jill E Urquhart; Sanjeev Bhaskar; Jonathan E Dickerson; Murat Mermerkaya; Mesrur Selcuk Silay; Malcolm A Lewis; M Beatriz Orive Olondriz; Blanca Gener; Christian Beetz; Rita E Varga; Omer Gülpınar; Evren Süer; Tarkan Soygür; Zeynep B Ozçakar; Fatoş Yalçınkaya; Aslı Kavaz; Burcu Bulum; Adnan Gücük; Wyatt W Yue; Firat Erdogan; Andrew Berry; Neil A Hanley; Edward A McKenzie; Emma N Hilton; Adrian S Woolf; William G Newman
Journal:  Am J Hum Genet       Date:  2013-01-11       Impact factor: 11.025

8.  Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign.

Authors:  Murat Mermerkaya; Evren Süer; Erdem Öztürk; Ömer Gülpınar; Mehmet İlker Gökçe; Fatime Nilüfer Yalçındağ; Tarkan Soygür; Berk Burgu
Journal:  Eur J Pediatr       Date:  2013-11-19       Impact factor: 3.183

9.  The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications.

Authors:  Atila Victal Rondon; Bruno Leslie; José Murillo Bastos Netto; Ricardo Garcia de Freitas; Valdemar Ortiz; Antonio Macedo Junior
Journal:  Einstein (Sao Paulo)       Date:  2015-05-01

10.  Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.

Authors:  Abeer Fadda; Fiza Butt; Sara Tomei; Sara Deola; Bernice Lo; Amal Robay; Alya Al-Shakaki; Noor Al-Hajri; Ronald Crystal; Marios Kambouris; Ena Wang; Francesco M Marincola; Khalid A Fakhro; Chiara Cugno
Journal:  BMC Med Genet       Date:  2016-11-17       Impact factor: 2.103
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