1/728. patients with CHARGE association: a model to study saccular function in the human.The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/728. 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.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
3/728. Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: a new midline disorder.We report on a Lebanese family in which 12 persons had an atrial septal defect and various cardiac and noncardiac anomalies. Cardiac anomalies are left axis deviation of QRS, right bundle branch block, atrial fibrillation, wolff-parkinson-white syndrome, nodal atrioventricular rhythm, aortic stenosis, pulmonic valve stenosis, mitral stenosis (lutembacher syndrome), and low implantation of the tricuspid valve (Ebstein disease). Noncardiac abnormalities consisted specially of the presence of hypertelorism, cleft lip, and pectus excavatum. This combination appears to constitute a hitherto undescribed autosomal dominant midline disorder of the heart and upper half of the body with almost full penetrance and variable expressivity. The mutation does not map to any known locus involved in atrial septal defect or conduction block.- - - - - - - - - - ranking = 0.0039927103972629keywords = valve (Clic here for more details about this article) |
4/728. Clinical characteristics of charge syndrome.charge syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of charge syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning charge syndrome.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
5/728. Vaginal atresia and bardet-biedl syndrome association: a component or a distinct entity?bardet-biedl syndrome is an autosomal recessive disorder. It is characterized by cardinal anomalies including retinal dystrophy, digital malformations, mental retardation, obesity, and hypogonadism. Recently, renal anomalies also are mentioned among the cardinal signs. Although association of genital anomalies among affected boys are well known, the association of vaginal atresia and other structural genital anomalies are not mentioned among the less-common manifestations of bardet-biedl syndrome in girls. Two girls with bardet-biedl syndrome presented with hematometrocolpos in the preadolescent period and vaginal atresia was diagnosed. After surgical treatment and extended hospitalization, uncontrolled sepsis resulted in progressive renal failure and death of both patients. Vaginal atresia is often delayed or missed in the early childhood period. In girls with bardet-biedl syndrome, vaginal atresia or other structural genital anomalies should be evaluated more systematically during the initial diagnosis of the syndrome. In infancy, the evaluation of a child with vaginal atresia also should include the differential diagnosis of bardet-biedl syndrome. Vaginal atresia may either form a component of the syndrome, or girls who present with vaginal atresia in addition to other components of bardet-biedl syndrome might form a distinct entity.- - - - - - - - - - ranking = 11keywords = atresia (Clic here for more details about this article) |
6/728. 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.- - - - - - - - - - ranking = 6keywords = atresia (Clic here for more details about this article) |
7/728. 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.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
8/728. A patient with VACTERL association, amelia and hemifacial microsomia.We report on a girl with anal atresia, renal aplasia, vertebral and rib anomalies, amelia and hemifacial microsomia. The patient demonstrates the overlap between the VACTERL association and the oculoauriculovertebral dysplasia. We propose that amelia is a severe manifestation of the limb defects which occur in these developmental dysplasias.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
9/728. A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?We report on a child we believe may have the same condition described in five children by Burn et al., in 1992 (Clin Dysmorphol 1:137-144). Component manifestations include choanal atresia, cardiac defects, prominent ears, hearing loss, and minor facial anomalies. Our patient also has rather significant short stature, thus adding to the variable phenotype of this condition.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
10/728. Divided left atrium in association with tricuspid atresia and discordant ventriculo-arterial connections.Division of the morphologically left atrium is a rare abnormality, constituting around 0.1% of congenital heart disease. It may coexist with other cardiac abnormalities, and this association may obscure its recognition. We report an uncommon association with tricuspid atresia and discordant ventriculo-arterial connections, the latter dominating the clinical picture. Accurate diagnosis was made by transthoracic cross-sectional echocardiography, and the patient was referred to surgery without need for cardiac catheterisation.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
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