RT Journal Article
SR Electronic
T1 Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1745
OP 1747
VO 27
IS 11
A1 Dursun, Ahmet
A1 Ermis, Bahri
A1 Numanoglu, Varim
A1 Bahadir, Burak
A1 Seckiner, Ilker
YR 2006
UL http://smj.org.sa/content/27/11/1745.abstract
AB 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.