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European Journal of Pediatrics
Published in: European Journal of Pediatrics 4/2010

01-04-2010 | Original Paper

Ochoa syndrome: a spectrum of urofacial syndrome

Authors: Ozgu Aydogdu, Berk Burgu, Fuat Demirel, Tarkan Soygur, Zeynep Birsin Ozcakar, Fatos Yalcınkaya, Serdar Tekgul

Published in: European Journal of Pediatrics | Issue 4/2010

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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).
Literature
1.
Ochoa B (2004) Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated. Pediatr Nephrol 19(1):6–12CrossRefPubMed
2.
Nicanor FA, Cook A, Pippi-Salle JL (2005) Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure. Int Braz J Urol 31(5):477–481CrossRefPubMed
3.
Elejalde BR (1979) Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: “The Ochoa syndrome”. Am J Med Genet 3:97–108CrossRefPubMed
4.
5.
Garcia-Minaur S, Oliver F, Yanez JM et al (2001) Three new European cases of urofacial (Ochoa) syndrome. Clin Dysmorphol 10(3):165–170CrossRefPubMed
6.
Chauve X, Missirian C, Malzac P et al (2000) Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family. Am J Med Genet 95(1):10–12CrossRefPubMed
Metadata
Title
Ochoa syndrome: a spectrum of urofacial syndrome
Authors
Ozgu Aydogdu
Berk Burgu
Fuat Demirel
Tarkan Soygur
Zeynep Birsin Ozcakar
Fatos Yalcınkaya
Serdar Tekgul
Publication date
01-04-2010
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 4/2010
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-009-1042-9

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