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Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis
Saudi Medical Journal. 2006; 27 (11): 1745-1747
em Inglês | IMEMR | ID: emr-80657
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
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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Pênis / Anormalidades Múltiplas / Deformidades Congênitas dos Membros / Fácies / Natimorto / Pulmão Tipo de estudo: Relato de Casos Limite: Humanos / Masculino Idioma: Inglês Revista: Saudi Med. J. Ano de publicação: 2006

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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Pênis / Anormalidades Múltiplas / Deformidades Congênitas dos Membros / Fácies / Natimorto / Pulmão Tipo de estudo: Relato de Casos Limite: Humanos / Masculino Idioma: Inglês Revista: Saudi Med. J. Ano de publicação: 2006