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Erschienen in: European Journal of Pediatrics 4/2010

01.04.2010 | Original Paper

Ochoa syndrome: a spectrum of urofacial syndrome

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

Erschienen in: European Journal of Pediatrics | Ausgabe 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).
Literatur
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Metadaten
Titel
Ochoa syndrome: a spectrum of urofacial syndrome
verfasst von
Ozgu Aydogdu
Berk Burgu
Fuat Demirel
Tarkan Soygur
Zeynep Birsin Ozcakar
Fatos Yalcınkaya
Serdar Tekgul
Publikationsdatum
01.04.2010
Verlag
Springer-Verlag
Erschienen in
European Journal of Pediatrics / Ausgabe 4/2010
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-009-1042-9

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