Ochoa syndrome: a spectrum of urofacial syndrome

• Published in: European journal of pediatrics Vol. 169; no. 4; pp. 431 - 435
• Main Authors: Aydogdu, Ozgu, Burgu, Berk, Demirel, Fuat, Soygur, Tarkan, Ozcakar, Zeynep Birsin, Yalcınkaya, Fatos, Tekgul, Serdar
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.04.2010; Springer; Springer Nature B.V
• Subjects: Abnormalities; Abnormalities, Multiple; Antibiotic Prophylaxis; Antibiotic Prophylaxis - methods; Biological and medical sciences; Catheterization; Catheterization - methods; Child; Cholinergic Antagonists; Cholinergic Antagonists - therapeutic use; Clinical Medicine; Combined Modality Therapy; complications; Face; Face - abnormalities; Facial Expression; Follow-Up Studies; General aspects; Humans; Klinisk medicin; Male; Medical sciences; Medicine; Medicine & Public Health; methods; Multiple; Nephrology. Urinary tract diseases; Neurogenic; Original Paper; Pediatrics; Pediatrik; Syndrome; therapeutic use; therapy; Urinary Bladder; Urinary Bladder, Neurogenic - complications; Urinary Bladder, Neurogenic - therapy; Urinary Incontinence; Urinary Incontinence - complications; Urinary Incontinence - therapy; Urinary system involvement in other diseases. Miscellaneous; Urinary Tract Infections; Urinary Tract Infections - complications; Urinary Tract Infections - therapy; Urinary tract. Prostate gland; Urologi och njurmedicin; Urology and Nephrology; Vesico-Ureteral Reflux; Vesico-Ureteral Reflux - complications; Vesico-Ureteral Reflux - therapy; Ochoa syndrome; Urofacial syndrome; Facial expression; Neurogenic bladder; Affect affectivity; Pediatrics; Nervous system diseases; Urinary system disease; Emotion emotionality; Urinary tract disease; Syndrome; Spectrum; Bladder disease; Neurological disorder; Face
• ISSN: 0340-6199; 1432-1076; 1432-1076
• DOI: 10.1007/s00431-009-1042-9

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).