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Clin Dysmorphol. 2001 Jul;10(3):165-70.

Three new European cases of urofacial (Ochoa) syndrome.

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  • 1Department of Paediatrics, Hospital de Cruces, Barakaldo, Spain.


We report on three European cases of urofacial (Ochoa) syndrome. This entity was originally described in Colombian patients and very few cases have been reported from other countries. It is likely that they may be missed because of variability of the urinary problems and failure to recognize the characteristic facial grimacing. Establishing an early diagnosis has important consequences for the management and prognosis of urinary problems in these patients.

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