Ochoa syndrome: a spectrum of urofacial syndrome.
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).
Aydogdu
Ozgu
O
Division of Pediatric Urology, School of Medicine, Ankara University, Ankara, Turkey. ozgucan@yahoo.com
Burgu
Berk
B
Demirel
Fuat
F
Soygur
Tarkan
T
Ozcakar
Zeynep Birsin
ZB
Yalcinkaya
Fatos
F
Tekgul
Serdar
S
D000015:Abnormalities, Multiple; D019072:Antibiotic Prophylaxis / Q000379:methods; D002404:Catheterization / Q000379:methods; D002648:Child; D018680:Cholinergic Antagonists / Q000627:therapeutic use; D003131:Combined Modality Therapy; D005145:Face / Q000002:abnormalities*; D005149:Facial Expression; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D013577:Syndrome; D001750:Urinary Bladder, Neurogenic / Q000150:complications* / Q000628:therapy; D014549:Urinary Incontinence / Q000150:complications* / Q000628:therapy; D014552:Urinary Tract Infections / Q000150:complications* / Q000628:therapy; D014718:Vesico-Ureteral Reflux / Q000150:complications* / Q000628:therapy
D018680:Cholinergic Antagonists