Cases reported "Anus, Imperforate"

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1/9. Imperforate anus: an unusual presentation of a common disease.

    Imperforate anus is a common problem facing the pediatric surgeon. Most cases of imperforate anus are discovered at birth during the initial physical examination and are corrected early. The pediatric population also accounts for 80% of all cases of ingested foreign bodies. Most of these pass through spontaneously and the treatment is observation. In this article, we present the case of a seven-month-old child in whom failure to pass a swallowed coin led to the diagnosis of imperforate anus. This case illustrates an uncommon presentation of a common disorder and emphasizes the importance of vigilance and careful physical examination in the newborn.
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2/9. VATER association.

    Baby S began oral feedings on day 8 at 20 ml/kg/day. The infant reached full enteral feedings on day 11 and was subsequently advanced to an ad lib demand schedule. The broviac catheter was removed on day 13. An orthopedic surgeon was consulted to evaluate abnormalities of the upper extremities and hip laxity noted on admission examination. The orthopedic specialist found decreased abduction of the hips bilaterally with no instability and normal range of motion on exam. An ultrasound showed bilateral posterior subluxation with no frank dislocation. The infant was evaluated by a physical therapist and received daily splinting and stretching of the upper extremities, with continued evaluation planned following discharge. When the infant was discharged on day 15, she was breastfeeding on a demand schedule with bottle supplementation and continued to receive ranitidine and metoclopramide. Follow-up was scheduled with the cardiologist, the orthopedic surgeon, and the family physician.
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3/9. Anorectal agenesis with a rectourethral fistula diagnosed in an adult: report of a case.

    We report an unusual case of anorectal agenesis with a rectourethral fistula diagnosed in a 48-year-old man. The patient presented after noticing hematuria, although he had been aware of urinary leakage from his colostomy with occasional fecal urine for about 4 years. He had had a double-barrel colostomy created soon after birth for an imperforate anus, with revision at the age of 4 years to correct a prolapse of the stoma, but his malformation had never been repaired. We performed a physical examination, which did not reveal a perineal fistula, but urethrocystography demonstrated high anorectal agenesis with a rectourethral fistula. Thus, we resected the rectourethral fistula and created an end-colostomy. The patient had an uneventful postoperative course, and was discharged in good health on postoperative day 19. To our knowledge, this is the oldest patient to be diagnosed with anorectal agenesis and undergo resection of a rectourethral fistula.
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4/9. Defaecation problems in children: anatomy, physiology and pathophysiology of the defaecation mechanism.

    Disturbed defaecation mechanism in children is an underestimated problem. On the one hand because many are unaware that children too may have serious defaecation problems, on the other hand due to ignorance of the anatomy and the physiology of the congenital malformations of the defaecation mechanism, such as anorectal malformations and Hirschsprung's disease. The notion that after operative correction the defaecation mechanism will function normally again is incorrect, for the surgical techniques have their limitations, and at postoperative check-up subjective feelings often obscure correct observation. Objective registration methods, morphological and functional tests that may elucidate the defaecation problem, are not being used to their full advantage. Two case histories illustrate the correlations between the anatomical structures of the defaecation mechanism, the functions of these structures, the history and physical examination of the patient, and defaecography and anorectal manometry. history and physical examination should be considered subjective registration methods, defaecography and anorectal manometry objective methods. After scrupulous evaluation of the recorded data it will appear to be possible to decide on the most suitable treatment and guidance.
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5/9. Surgically correctable fecal incontinence.

    A significant percentage of children who are fecally incontinent are so from improper operation or failure to recognize a surgically correctable problem. Over the past five years, we have managed ten children who had operations for anorectal problems and two with anterior anus. Seven were seen after poorly positioned pull-through procedures for imperforate anus and had anal repositioning, four successfully. Gracilis sling was successful in two of the other three. In two children overflow after a Duhamel operation for Hirschsprung's disease was corrected by division of a persistent anorectal septum. The third child with a disrupted Duhamel procedure was cured by anolevatorplasty. In two children an anterior ectopic anus was made continent by posterior anoplasty. Primary and secondary deviations from proper anatomy of the anorectal region will result in incontinence, which may be recognized by physical examination and defecograms. Proper operation usually produces acceptable continence.
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6/9. Congenital rectal stenosis: a sign of a presacral pathologic condition.

    Congenital rectal stenosis may be detected in the newborn during the initial physical examination. Failure of conservative therapy (dilatation) should alert the physician to the presence of an associated pathologic condition in the presacral space. Presacral teratoma, anterior sacral meningocele, or bony anomalies may be the underlying extrinsic causes of congenital rectal stenosis. Prompt recognition and appropriate operative management directed at the presacral lesion will relieve obstructive symptoms and minimize morbidity.
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7/9. The aetiology of the cat eye syndrome reconsidered.

    The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation. An analysis of published reports revealed that of the 57 reported cases, only 21 showed the complete form, and 11 had a normal karyotype. Several observations question the existence of a trisomy 22:(1) the absence of any report in living subjects of trisomy 22 arising from an inherited Robertsonian translocation; (2) the recurrent abortions in carriers of Robertsonian translocations involving chromosome 22; and (3) the existence of a syndrome, showing the same clinical features as trisomy 22, which is irrefutably dependent on a trisomy of the distal region of the 11 long arm. On the basis of a comparison of the clinical features in full trisomy 13, partial 13 trisomies, 13 rings, 13 deletions, and CES the small marker present in this syndrome is considered to be a chromosome 13 with an interstitial deletion. An attempt to map this chromosome has been made.
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keywords = physical
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8/9. Omphalocele-exstrophy-imperforate-anus-spina bifida (OEIS) complex in a male prenatally exposed to diazepam.

    A male clinically affected by the OEIS complex was studied. His mother, aged 30 years, has an affective disorder and ingested 30 mg of diazepam daily, from 3 months previous to the gestation and during the entire pregnancy. At birth, a closure during the entire pregnancy. At birth, a closure defect of the anterior abdominal wall, exstrophy of hemibladders, exposure of intestinal epithelium, abnormal pelvis, imperforate anus, and bifid penis were noted. birth weight was 3600 g and other measurements were not recorded. colostomy was performed in the postnatal period followed by partial closure of the abdominal wall defect, and iliac osteotomies. At six years, 6 months of age, physical examination showed somatometric measurements around the third percentile (height 109 cm, weight 17 kg, cephalic circumference 48.5 cm). Clinically he presented mild mental retardation, functional colostomy, incomplete closure of the vesical exstrophy, imperforate anus, bifid penis and scrotum, descended testes, diastasis of pubis, lumbosacral scoliosis and shortening of the left leg (clinical photograph of the external features is not included as we were not able to obtain authorization to do so). Radiological studies (Figure 1) revealed wide separation of the ischiopubic bones; lumbosacral region with rotoscoliosis, platyspondyly and dysraphism; left coxa valga, and right coxa vara. The abdominal ultrasonographic studies showed unilateral renal agenesis (left). Chromosomal analysis (GTG bands) in peripheral blood lymphocyte cultures demonstrated a normal 46,XY constitution. Exposure to other substances, particularly alcohol, were excluded with the study of the mother's medical history and through information obtained from relatives.(ABSTRACT TRUNCATED AT 250 WORDS)
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9/9. Imperforate anus, delayed presentation in a 7-year-old girl.

    Most of the cases of imperforate anus should be discovered at birth, during the initial physical examination. This case represents the status of Third World rural perinatal care, wherein delivery of an infant by a midwife in poverty stricken area of mountainous Jipijapa, ecuador, failed to reveal the anomaly during the cursory examination. Moreover, the cultural taboos of the Jipijapan agricultural community further delayed the diagnosis. A 7-year-old girl with imperforate anus presenting with a rectovaginal fistula is reported. Specific findings in the case, therapy, and an approach to the diagnosis are discussed.
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