Cases reported "Abnormalities, Multiple"

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11/490. An uncommon association relating to cloacal maldevelopment: bladder agenesis, anorectal atresia, and absence of vulva, vagina, and uterus.

    The authors report on a newborn girl with complex urogenital and hindgut abnormalities. Urogenital anomalies consisted of absence of vulva and vagina, uterine and urethral atresias, bladder agenesis with ectopic ureteric opening, and bilateral pelvic ectopic kidneys. In addition, the baby had anorectal atresia without fistula as a hindgut anomaly. Herein, clinical evaluation and embryological review are made to explain the concomitant occurrence of these rare malformations.
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12/490. Resection of abdominal aortic aneurysm in a patient with left-sided inferior vena cava and horseshoe kidney.

    The presence of vascular and renal anatomical anomalies can create technical problems during abdominal aortic surgery and may give rise to serious intraoperative complications. We present a case of an abdominal aortic aneurysm resected in a patient with the extremely rare coexistence of a left-sided inferior vena cava and horseshoe kidney. The diagnosis of the anomalies was made prior to aortic surgery. CT-scan of the abdomen was the most accurate preoperative investigation. Aortic surgery was performed through a transperitoneal approach which allowed easy access to the aneurysm despite the presence of the left-sided inferior vena cava and horseshoe kidney. Recognition of vascular and renal anomalies on preoperative imaging studies is important in the surgical treatment of abdominal aortic aneurysms. If possible anomalies are recognized in time and treated correctly, the morbidity and mortality of aneurysm repair should not be influenced.
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13/490. Cloacal malformation with solitary crossed renal ectopia and single-system vaginal ectopic ureter.

    A patient with a cloacal malformation and hydrocolpos underwent a colostomy and vaginostomy in the neonatal period and total reconstruction at 7 months of age. Associated upper-urinary-tract abnormalities included solitary crossed left renal ectopia and a non-functioning right kidney with a single-system vaginal ectopic ureter.
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14/490. Covered exstrophy with incomplete duplication of the bladder.

    A rare exstrophy variant in a 1(1/2)-year-old girl is reported. The child had a wide, scar-like lesion over the lower central abdomen with divarication of the recti and a spread symphysis pubis. The underlying bladder was divided into two unequal chambers by a complete sagittal septum with only the right chamber communicating with the single urethra and the left draining by a vesicocutaneous fistula. Both kidneys were normal. The clitoris was bifid and the anus anteriorly placed. Preliminary surgical management consisted of dissection of the bladder from its prevesical covering, excision of the sagittal septum, and cystocystostomy. Postoperatively, the child had normal urinary continence. The literature is reviewed with special reference to the various forms of duplicate exstrophy.
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15/490. Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.

    Cryptic unbalanced chromosome rearrangements in the telomeric bands of the chromosomes may constitute a significant cause of unexplained mental retardation with or without congenital anomalies. We report on a boy with a terminal deletion of the long arm of chromosome 13, combined with a partial duplication of the short arm of chromosome 20, owing to a cryptic balanced translocation in his father. The karyotype of the father was 46XY,t(13;20)(q34;p13). The propositus presented with severe mental and growth retardation, microcephaly, facial anomalies including ptosis of the right upper eyelid, a high nasal bridge, small palpebral fissures, and bilateral epicanthus, hypospadias, and scoliosis. A younger brother died at birth and had a low birth weight, hypospadias, and a horseshoe kidney. Repeated chromosome analyses with high resolution banding in the propositus and his parents were apparently normal. chromosome painting eventually disclosed the cryptic translocation in the father with unbalanced karyotype in the propositus. The importance of additional FISH analysis in patients with unexplained mental retardation, physical anomalies, and apparently normal chromosomes is emphasized.
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16/490. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

    Renal-coloboma syndrome, an autosomal dominant disorder characterized by colobomatous eye defects, vesicoureteral reflux, and abnormal kidneys, results from mutations in PAX2. The purpose of this study was to identify mutations in PAX2 and understand the associated patient phenotypes. We report a severely affected girl and a mildly affected mother and daughter, all of whom have PAX2 homoguanine tract (7 G) missense mutations. The mother and daughter have optic nerve colobomas and the daughter has vesicoureteral reflux. The severely affected girl developed renal failure and has bilateral colobomatous eye defects. Additionally, this girl developed hydrocephalus associated with platybasia and a Chiari 1 malformation. We examined genomic dna from these individuals by SSCP and sequencing. The mother and daughter had a novel mutation: a contraction in a string of 7 G's to 6 G's in one allele of PAX2, leading to a premature stop codon two amino acids downstream. The severely affected girl had an expansion to 8 G's, leading to a premature stop codon 27 amino acids downstream. The 8 G expansion has been found in other patients without brain anomalies and has occurred spontaneously in a mouse model, PAX2(1Neu). We expand the known phenotype associated with mutations in PAX2 to include brain malformations. The homoguanine tract in PAX2 is a hot spot for spontaneous expansion or contraction mutations and demonstrates the importance of homonucleotide tract mutations in human malformation syndromes.
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17/490. Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

    We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.
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18/490. truncus arteriosus and other lethal internal anomalies in Goltz syndrome.

    An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. Such a combination of severe anomalies has not been reported previously in Goltz syndrome.
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19/490. Dandy-Walker anomaly in Meckel-Gruber syndrome.

    We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus. The main neuropathological finding at autopsy was in a very large cyst located in an abnormally wide posterior cranial fossa consistent with a Dandy-Walker anomaly. Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms a disturbance in rhombencephalon development. Although uncommon, it should be included among the central nervous anomalies representative of the syndrome.
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20/490. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.

    A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in TBS include renal hypoplasia, renal dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethral valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a dominantly inherited defect in the gene encoding the SALL1 putative transcription factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this gene. The extent of renal involvement in patients with TBS should be evaluated for optimum treatment and prediction of prognosis.
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