title: 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.
authors.affiliation: Department of Medical Genetics, ZKU Medical Faculty, Kozlu, 67600 Zonguldak, Turkey. dursuna@karaelmas.edu.tr
authors.forename: Ahmet
authors.initials: A
authors.lastname: Dursun
authors.forename: Bahri
authors.initials: B
authors.lastname: Ermis
authors.forename: Varim
authors.initials: V
authors.lastname: Numanoglu
authors.forename: Burak
authors.initials: B
authors.lastname: Bahadir
authors.forename: Ilker
authors.initials: I
authors.lastname: Seckiner
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology; D001344:Autopsy; D019066:Facies; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000473:pathology; D008168:Lung / Q000002:abnormalities*; D008297:Male; D021782:Multicystic Dysplastic Kidney / Q000473:pathology; D010413:Penis / Q000002:abnormalities*; D011859:Radiography; D050497:Stillbirth