Ochoa syndrome: a spectrum of urofacial syndrome.

Ozgu Aydogdu; Berk Burgu; Fuat Demirel; Tarkan Soygur; Zeynep Birsin Ozcakar; Fatos Yalcınkaya; Serdar Tekgul

doi:10.1007/s00431-009-1042-9

Ochoa syndrome: a spectrum of urofacial syndrome.

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

Ankara University

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

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).

Original language	English
Pages (from-to)	431-435
Number of pages	5
Journal	European Journal of Pediatrics
Volume	169
Issue number	4
DOIs	https://doi.org/10.1007/s00431-009-1042-9
Publication status	Published - Apr 2010
Externally published	Yes

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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).",

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AU - Aydogdu, Ozgu

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AU - Demirel, Fuat

AU - Soygur, Tarkan

AU - Ozcakar, Zeynep Birsin

AU - Yalcınkaya, Fatos

AU - Tekgul, Serdar

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AB - 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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Ochoa syndrome: a spectrum of urofacial syndrome.

Abstract

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