Dursun, Ahmet | Ermis, Bahri | Numanoğlu, Kemal Varın | Bahadır, Burak | Seçkiner, İlker

Article | 2006 | SAUDI MEDICAL JOURNAL27 ( 11 ) , pp.1745 - 1747

Hereditary renal adysplasia (HRA) is a rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low-set ears, and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thick skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dyspla . . .sia, agenesis of both ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association, and Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis Daha fazlası Daha az

Konuk, Numan | Atik, Levent | Şimşekyılmaz, Özge | Dursun, Ahmet | Açıkgöz, Şereften

Letter | 2006 | Australian and New Zealand Journal of Psychiatry40 ( 8 ) , pp.717 - 718

[No abstract available]