Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis

Abstract

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 dysplasia, 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.