Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a twin with acardia acephalus or "Twin Reversed Arterial Perfusion Sequence" and prune belly sequence in the co-twin. In a former quite similar case a prune belly appearance of the co-twin of an acardiac fetus was found to be secondary to the ascites caused by cardiac failure. In the present case, we are dealing with the prune belly sequence as a separate condition, given the fact there were no signs of ascites or cardiac failure. We also found associated anomalies: agenesis of the left ureter and kidney, dysplastic right kidney and anal atresia. Urinary tract obstruction has never been described in the co-twin of an acardiac amorphous fetus.
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PMID:Acardiac amorphous twin with prune belly sequence in the co-twin. 187 24

The unusual delivery of a dead second twin with rare malformations is presented. The first twin, born live following a normal labor, had no malformations. The birth of the second twin was obstructed by massive ascites, and its abdomen had to be perforated before delivery. The sex could not be determined due to lack of the internal genitalia and the fetal appearance of the external genitals. The left kidney and ureter were hypoplastic. The right ureter and distal part of the colon were dilated and opened into a large primitive cystic cloaca without communication to the exterior. The ascites was probably caused by the urinary obstruction. These malformations probably represent one of the earliest arrested developments of the embryonic hindgut. The presence of a tracheo-esophageal fistula and a single umbilical artery, together with the anal atresia and the renal anomalies, could indicate that the anomalies formed part of the VATER association.
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PMID:Twins discordant for vater association. Obstructed labor of the second twin due to ascites and persistent cloaca without communication to the exterior. 372 44

A newborn with extreme hypotrophy of the lower body pole and aplasia of the lower spinal column is reported. Additional anomalies of internal organs included absence of one kidney and ureter, a diaphragmatic hernia, and anal atresia. Part of the organs located in the lower body pole were necrotic. There were no excretory apertures, and external genitalia were absent. Chromosomal analysis revealed a 46,XY karyotype. The multiple anomalies seen in this newborn may be interpreted as a maximal variant of the caudal regression sequence.
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PMID:Extreme hypotrophy of the lower body pole, extensive hypoplasia of the spinal column and multiple anomalies of abdominal organs: a maximal variant of the caudal regression sequence? 773 12

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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PMID:Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis. 1760 36

A female born with a lumbosacral lipomyelomeningocele, an associated foot-shaped appendage attached to her sacrum, sacral dysgenesis, anal atresia, a recto-vaginal fistula and duplication of the right ureter is reported. We consider this case represents a pygomelus associated with a lipomyelomeningocele and an incomplete expression of Currarino's triad.
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PMID:Spinal dysraphism and the Currarino triad. 1863 45