Ochoa syndrome: a spectrum of urofacial syndrome

Aydogdu, Ozgu; BURGU, BERK; Demirel, Fuat; SOYGÜR, YAKUP; ÖZÇAKAR, ZEYNEP; Yalcinkaya, Fatos; TEKGÜL, SERDAR

doi:10.1007/s00431-009-1042-9

Ochoa syndrome: a spectrum of urofacial syndrome

Aydogdu O., BURGU B., Demirel F., SOYGÜR Y. T., ÖZÇAKAR Z. B., Yalcinkaya F., ...Daha Fazla

EUROPEAN JOURNAL OF PEDIATRICS, cilt.169, sa.4, ss.431-435, 2010 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 169 Sayı: 4
Basım Tarihi: 2010
Doi Numarası: 10.1007/s00431-009-1042-9
Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.431-435
Anahtar Kelimeler: Urofacial syndrome, Ochoa syndrome, Neurogenic bladder, Facial expression
Ankara Üniversitesi Adresli: Evet

Özet

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).