Cases reported "Abnormalities, Multiple"

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1/497. Crossed ectopia of solitary kidney. A report of two cases and a review of the literature.

    Two cases of crossed ectopia of solitary kidney found in two boys are present. This rare anomaly has been accompanied by imperforate anus and inguinal hernia in one boy and by imperforate anus, urethrorectal fistula, cryptorchism, and penoscrotal and vertebral anomalies in the other. 21 cases have been collected and the present two patients appear to be the 22nd and 23rd cases reported in the world literature.
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ranking = 1
keywords = fistula
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2/497. An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.

    OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.
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keywords = fistula
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3/497. 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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ranking = 1
keywords = fistula
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4/497. Esophageal lung with multiple congenital anomalies: conundrums in diagnosis and management.

    BACKGROUND/PURPOSE: Communicating bronchopulmonary foregut malformations (CBPFM) are a diverse group of potentially devastating congenital anomalies with anatomy that may be difficult to delineate. The authors present a case that illustrates conundrums in the diagnosis and management of these complex disorders. methods: A term baby had esophageal atresia (EA), tracheoesophageal fistula (TEF), and tetralogy of fallot. Initially, a gastrostomy was performed, and a balloon catheter was inserted through the endotracheal tube to occlude the fistula until the patient was hemodynamically stable. Subsequently, the fistula was ligated. Postoperatively, the left lung collapsed, and bronchoscopy showed an atretic left mainstem bronchus. Repeat thoracotomy showed that the fistula ligation was intact. Air was introduced through the gastrostomy tube, and, surprisingly, the left lung inflated, indicating the left mainstem bronchus arose from the esophagus distal to the ligated TEF. RESULTS: Despite reopening this fistula, ventilation remained poor, and support was withdrawn. autopsy findings confirmed a unilobed left lung arising from the esophagus, EA, TEF, an atretic left mainstem bronchus, tetralogy of fallot, and digeorge syndrome. CONCLUSIONS: This is the first report of a combination of EA and distal TEF with a second CBPFM involving the esophagus and the entire left lung. Successful correction of these anomalies will require extensive delineation of the anatomy to plan an operative strategy.
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ranking = 5
keywords = fistula
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5/497. A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.

    Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome.
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ranking = 0.99309182895743
keywords = dental
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6/497. Congenital pouch colon in females.

    From January 1995 to March 1998, congenital pouch colon (CPC) with anorectal agenesis was diagnosed in ten girls who were classified into four groups based on the length of normal colon proximal to the colonic pouch. Of six girls with little or no normal colon, one had a cloacal anomaly while five had a colovesical or colovestibular fistula along with a completely bifid uterus and cervix and a septate vagina. Initial surgery consisted of ligation of the fistula and subtotal pouch excision with tubularization of the remaining colon in four girls, ileostomy after excision of a gangrenous pouch in one, and window colostomy in another. None of the patients had a sacral abnormality or associated major malformation. Definitive surgery using the posterior sagittal approach consisted of a pull-through of the tubularized colon in three girls (including one in whom one-stage cloacal reconstruction was performed), the ileum in one, and the proximal colon in another. The four girls with a longer length of normal colon had an associated vestibular fistula. In these, a colostomy was constructed just proximal to the pouch with definitive surgery in two patients consisting of excision of the pouch and pull-through of the proximal colon. Definitive surgery was well tolerated in all seven patients. The embryogenesis of this condition and the related genitourinary tract abnormalities are discussed.
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ranking = 3
keywords = fistula
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7/497. 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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ranking = 1
keywords = fistula
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8/497. Bilateral coronoid process hyperplasia with limitation on mouth opening: case report.

    Coronoid process hyperplasia with limitation of mouth opening is rare. The pathology is often ignored, but it can be easily detected using dental panoramic view of x-ray films. Definition of the coronoid process hyperplasia can be made by measuring the height of coronoid process and the ratio of coronoid/condyle height on lateral cephalometric x-ray film. Etiology of the coronoid process hyperplasia can be congenital or acquired. Differentiation of the diagnosis may be difficult. The congenital type occurs at early age with clinical manifestations. Proposed hypotheses for the formation of coronoid process hyperplasia include increased activity within the temporalis muscle from conditions such as functional stress, compression, and tension. For patients with coronoid process hyperplasia and restriction on mouth opening, conservative treatment should first be attempted. Surgical treatment is considered if conservative treatment fails. Coronoidectomy with early mobilization and aggressive physiotherapy corrects the problem. We present a patient with coronoid process hyperplasia with limitation of mouth opening who was successfully treated.
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ranking = 0.16551530482624
keywords = dental
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9/497. A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor?

    We describe a rare occurrence of pericentric inversion in homologues of chromosome 9 observed in a 2-mo-old female baby with eye and brain abnormalities. Her clinical and neuroradiological features are similar to the signs of walker-warburg syndrome. We found the same inversion in heterozygous condition in all metaphases of both parents, who are related, and in two grandparents and their mother. The cytogenetic abnormality alone does not explain the phenotype in this patient, but it warrants further linkage studies with emphasis on the pericentric region of chromosome 9 in patients with walker-warburg syndrome phenotype. This family case is unique and raises suspicions about whether the pericentric region of chromosome 9 has any connection with the phenotype of Walker-Warker syndrome.
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ranking = 0.66206121930495
keywords = dental
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10/497. Vesicocolonic fistula four years after augmentation colocystoplasty.

    An 8-year-old girl was born with crossed fused renal ectopia and neurogenic bladder due to sacral agenesis. Due to progressive upper tract deterioration and incontinence despite clean intermittent catheterization and pharmacotherapy with anticholinergic agents, the patient underwent augmentation colocystoplasty at the age of 4 years. Four years after surgery the girl was readmitted because of persistent febrile urinary tract infection, persistent metabolic acidosis, and intermittent watery diarrhea. A cystogram revealed a fistula between the dome of the augmented bladder and the transverse colon. The fistula was successfully resected. The presence of enterovesical fistula should always be suspected in a patient with augmented bladder who have late onset of urinary tract infection, metabolic acidosis, and diarrhea.
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ranking = 7
keywords = fistula
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