11/42. Double atresia of hindgut with ileal stenosis: a case report.An unusual case of imperforate anus with sigmoid colonic atresia and ileal stenosis is described. Only six cases of imperforate anus associated with colonic atresia have previously been reported in japan. The possibility of other alimentary obstructions should thus be considered when anorectal anomalies are observed.- - - - - - - - - - ranking = 1keywords = atresia, anus (Clic here for more details about this article) |
12/42. Urogenital sinus, rectovaginal fistula, and an anterior stenosed anus--another cloacal variant.The persistent cloaca is one of the most complex and challenging developmental malformations. It is a rare anomaly occurring only in the female newborn and is represented by the association of urogenital sinus with an anorectal malformation (arm). Each case is probably unique. We report here one such case of cloaca with the VATER association-tracheoesophageal fistula (TOF) with a urogenital sinus, rectovaginal fistula, and an anteposed stenosed anus, along with preaxial syndactyly of the right hand. The spine, renal, and cardiac systems were normal. Interim management was directed towards repair of the TOF and a right transverse defunctioning colostomy. Despite thorough radioendoscopic preoperative investigations, the complexity of the cloacal anomaly was not delineated until surgery. This case is a rather rare combination of an intermediate form of the cloacal-arm spectrum. Such patients present with many diagnostic and therapeutic problems. Interval surgery should be directed towards decompression of the affected organ systems, and definitive surgery must be carefully planned and, whenever possible, done in a single stage with simultaneous multisystem repair to correct all significant malformations related to the cloacal complex.- - - - - - - - - - ranking = 0.012507745431743keywords = anus (Clic here for more details about this article) |
13/42. A new case of a severe clinical phenotype of the cat-eye syndrome.A new case of severe clinical phenotype of the cat-eye syndrome: We report on a female infant with severe clinical phenotype of Cat-eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence of the external ears, hypertelorism, bilateral ocular coloboma of iris and micrognathia. In addition, she had anal stenosis, a patent ductus arteriosus and intra- and extra- hepatic biliary atresia. She deteriorated with the development of bradycardia. She died at age one month of cardiac failure. cytogenetic analysis of the proband showed an extra de novo small bisatelllited marker chromosome in all cells examined. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified the marker as a CES chromosome. Thus, the patient's karyotype was: 47, XX, idic(22)(pter-->q11.2 ::q11.2-->pter). The duplication breakpoints giving rise to the CES chromosome were distal to the digeorge syndrome (DGS) locus 22q11.2. The marker could be classed as a type 11 symmetrical (10). According to a recent review of CES literature (1) only 41 % of the CES patients have the combination of iris coloboma, anal anomalies and preauricular anomalies. Almost 60% are hard to recognize by their phenotype alone. Only twelve patients showed a severe clinical phenotype leading to the death of the child. This phenotypic variability increases the difficulties of genetic counseling.- - - - - - - - - - ranking = 0.16583281697122keywords = atresia (Clic here for more details about this article) |
14/42. Traumatic external auditory canal atresia.Gunshot injuries in the periauricular region can result in massive tissue distortion and destruction. The soft tissue effects can be so dramatic that otologic abnormalities can be initially overlooked, especially by non-otolaryngologists. Delayed stenosis or complete closure of the external auditory canal can occur. We present two cases of post-traumatic ear canal atresia that were initially overlooked by non-otolaryngologists, until secondary plastic reconstructive operations were performed in which preauricular skin incisions entered into large canal cholesteatomas. These canal cholesteatomas resulted from total obstruction of the external auditory canal after trauma.- - - - - - - - - - ranking = 0.82916408485609keywords = atresia (Clic here for more details about this article) |
15/42. Successful dilatation of left pulmonary artery stenosis by stent implantation through a modified Blalock-Taussig shunt in an infant with pulmonary atresia and ventricular septal defect.We successfully implanted a coronary stent via a modified Blalock-Taussig shunt to relieve stenosis of the left pulmonary artery in an infant with pulmonary atresia and ventricular septal defect. The placement of a flexible coronary stent via a modified Blalock-Taussig shunt is a safe and feasible catheter intervention for the treatment of infants with hypoplastic pulmonary arteries.- - - - - - - - - - ranking = 0.82916408485609keywords = atresia (Clic here for more details about this article) |
16/42. Chiari malformation and odontoid panus causing craniovertebral stenosis in a child with Crouzon's syndrome.Crouzon's disease is a well-known disorder affecting multiple organ systems, specifically a craniofacial disorder with highly variable penetrance and severity of deformity. Crouzon's patients typically have anomalies of the skull base leading to gross distortion of the cranium and in some cases the cervicocranium. We present a 5-year-old girl with Crouzon's disease who suffered from an acquired Chiari I malformation after insertion of a ventriculoperitoneal shunt and a coexistent ventral odontoid panus. Both these lesions were causing cervicomedullary compression. The literature is controversial on the surgical management of anterior and posterior compression at the craniocervical junction. We review the literature on surgical options for decompression at the craniocervical junction and offer our surgical case as a treatment option for patients in this rare clinical situation.- - - - - - - - - - ranking = 0.012507745431743keywords = anus (Clic here for more details about this article) |
17/42. Complete Currarino triad in all affected members of the same family.Currarino triad is a rare hereditary disease. The complete form is characterized by the presence of an anorectal malformation, usually anorectal stenosis, a presacral mass and sacral bony defect. The main symptom is the presence of constipation since early life. In over 80 % of cases, the syndrome is diagnosed during the first decade of life. We report on three patients, members of the same family, with the complete form of the syndrome. The main symptom in our patients was intense constipation and the common clinical finding was an ectopic and stenotic anus. In two of them, father and son, the presacral masses were not diagnosed at the time of previous unsuccessful operations in another hospital for correction of the ectopic anus. In the third patient, Currarino syndrome was associated with Hirschsprung's disease. This has not been described previously. Two of the three patients who were admitted in our institution for simultaneous excision of the presacral mass and correction of the anorectal malformation through a posterior midsagittal coccygo-perineal approach, are free of symptoms. To the authors' knowledge, this is the second report of complete Currarino triad in all affected members of the same family.- - - - - - - - - - ranking = 0.0050030981726971keywords = anus (Clic here for more details about this article) |
18/42. Congenital nasal pyriform aperture stenosis.The congenital stenosis of pyriform aperture is an unusual cause of neonatal nasal obstruction. It is due to bony overgrowth of the nasal lateral process of the maxilla. Initially this narrowest part of nasal airway was considered an isolated deformity; subsequently the congenital Stenosis of pyriform aperture was thought to represent a microform of holoprosencephaly. In this report a male neonate had respiratory distress, cyclic cyanosis and apnea after delivery. The patient underwent surgical correction of pyriform stenosis by sublabial access. In the follow up, the patient had good evolution. The report of this deformity shows an important cause of neonatal nasal obstruction and its differential diagnosis with bilateral choanal atresia. Congenital stenosis of nasal pyriform aperture can be surgically corrected when necessary.- - - - - - - - - - ranking = 0.16583281697122keywords = atresia (Clic here for more details about this article) |
19/42. Currarino syndrome: report of two cases and review of the literature.In the present paper the authors examine two cases of Currarino syndrome and review the existing literature on the disease. Both cases presented with chronic constipation. The first concerns a two year old male born with anorectal stenosis and diagnosed with Currarino syndrome when scimitar sacrum and anterior meningocele were finally detected. The second concerns a 25 year old female who suffered from chronic constipation but was not diagnosed until thorough examination revealed ectopic anus with hirschsprung disease, scimitar sacrum and anterior meningocele. Because these patients were not diagnosed with Currarino syndrome when first seen, the authors reviewed its prevalence, embryogenesis, clinical manifestations, diagnosis and treatment. The authors' research supports the significance of prompt diagnosis in effective treatment and reduction of morbidity.- - - - - - - - - - ranking = 0.0025015490863485keywords = anus (Clic here for more details about this article) |
20/42. Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients.Deletion of chromosome 22q11 is a common genetic condition with varying clinical presentation ranging from neonatal fatality to patients whose presentation to medical services will be prompted after a few years by speech delay or mild developmental concerns. While most published data relating to patients with 22q11 deletions has focused on the "classical" presentation of the condition with cardiac manifestations, hypocalcaemia and velopharyngeal insufficiency, a much wider range of clinical presentations can characterise this syndrome. Anal anomalies, comprising imperforate anus and symptomatic anal stenosis, are a rarely described presentation of this multisystem disorder. In this report we document three patients presenting to paediatric services with symptoms attributed initially to symptomatic anal stenosis/atresia.- - - - - - - - - - ranking = 0.16833436605757keywords = atresia, anus (Clic here for more details about this article) |
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