Division of Pediatric Urology, School of Medicine, Ankara University, Ankara, Turkey.
Eur J Pediatr. 2010 Apr;169(4):431-5. doi: 10.1007/s00431-009-1042-9. Epub 2009 Aug 11.
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).
尿面综合征，又称 Ochoa 综合征，是一种罕见的常染色体隐性遗传病，男女均可发病，以尿路病变和面部畸形为特征。由于膀胱功能障碍，早期诊断对于管理和预测尿路问题至关重要。我们报告了来自土耳其的五个家庭的 11 例尿面综合征患者，中位随访时间为 32 个月（范围 2-44 个月）。
