1/443. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.- - - - - - - - - - ranking = 1keywords = stenosis (Clic here for more details about this article) |
2/443. Successful correction of double-outlet right ventricle with a ventricular D-l-malposition of the great arteries, bilateral conus, pulmonary stenosis and subaortic ventricular septal defect.The authors present the case of a fifteen-year old girl with double outlet right ventricle with ventricular d-loop and l-malposition of the great arteries, bilateral conus, pulmonary stenosis and subaortic ventricular septal defect, who was operated on successfully. This is the fourth case of double outlet right ventricle with l-position of the aorta that has been surgically corrected. The subaortic position of the interventricular defect favours the creation of the tunnel connecting the left ventricle with the aorta without obstructing the right ventricular outflow tract. The patient was doing well 11 months postoperatively.- - - - - - - - - - ranking = 5keywords = stenosis (Clic here for more details about this article) |
3/443. 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 = 3keywords = stenosis (Clic here for more details about this article) |
4/443. A case of lateral facial clefts with Fallot tetralogy, duodenal stenosis and intestinal malrotation: a new multiple congenital anomaly syndrome?Multiple congenital malformations in a Caucasian female infant are described which include lateral facial clefts, malformed external ears, cleft palate, Fallot tetralogy, duodenal stenosis and intestinal malrotation. There were no associated limb or spinal anomalies. This case appears to be an example of a new multiple congenital anomaly syndrome.- - - - - - - - - - ranking = 5keywords = stenosis (Clic here for more details about this article) |
5/443. cor triatriatum sinistrum, aortic coarctation and bicuspid aortic stenosis in an adult.Cardiac anomalies are usually diagnosed early in life, which is particularly true for their various combinations. The diagnosis in adulthood is rare. Here we report the case of a young man with an aortic coarctation corrected at the age of 16, however the associated stenotic bicuspid aortic valve and cor triatriatum sinistrum were corrected after streptococcus viridans endocarditis 7 years later.- - - - - - - - - - ranking = 4keywords = stenosis (Clic here for more details about this article) |
6/443. Single central maxillary incisor with nasal pyriform aperture stenosis--CT diagnosis prior to tooth eruption.Two children with nasal pyriform aperture stenosis had the diagnosis of single central maxillary incisor made with CT scanning prior to tooth eruption and the clinical appreciation of this finding. The surgical and clinical implications of this diagnosis will be presented.- - - - - - - - - - ranking = 5keywords = stenosis (Clic here for more details about this article) |
7/443. Aplasia of right internal carotid artery and hypopituitarism.BACKGROUND: The pathogenesis of congenital hypopituitarism is unknown in many cases. OBJECTIVE: We report a case of congenital pan-anterior hypopituitarism in association with a complex vascular abnormality involving the central nervous system, nasal pyriform aperture stenosis, and a single central maxillary incisor. MATERIALS AND methods: MRI and MRA were used to define this patient's complex vascular anomaly. RESULTS: The vascular abnormality consists of absence of the right common carotid artery, the right internal carotid artery, the A1 segment of the right anterior cerebral artery, the anterior communicating artery, and partial absence of the M1 segment of the right middle cerebral artery. CONCLUSION: This unusual vascular anomaly may contribute to the pathogenesis of some cases of congenital hypopituitarism and related midline abnormalities, or may result from a common defect that causes pituitary insufficiency.- - - - - - - - - - ranking = 1keywords = stenosis (Clic here for more details about this article) |
8/443. Partial trisomy 13q22-->qter and monosomy 18q21-->qter as a result of familial translocation.We report on a patient with a partial trisomy of chromosome 13q22-->qter and partial monosomy of chromosome 18q21-->qter showing distinct malformations. The phenotype of this unbalanced karyotype has not been previously described. The proband had a craniofacial dysmorphism, neck pterygium, closed fists with overlapping fingers, cutaneous appendix of the left fist, equinovarus and postaxial hexadactyly of the feet, atrial septum defect, unilateral cryptorchidism and hypertrophic pyloric stenosis. Using fluorescence in situ hybridization (FISH) the father's karyotype 46,XY.ish t(13;18)(13pter-->13q22::18q21-->18qter; 18pter-->18q21::13q22-->13qter) and the child's 46,XY.ish der(18)(18pter-->18q21::13q22-->13qter)pat were established. The mother's karyotype was normal. A risk of unbalanced offspring in carriers of a balanced reciprocal translocation depends on the length and genetic constitution of the exchanged segments. risk figures should come only from empirical data. A phenotypically normal child with a balanced or normal karyotype could be born in the case of alternate segregation. amniocentesis should therefore be recommended in any further pregnancy.- - - - - - - - - - ranking = 1keywords = stenosis (Clic here for more details about this article) |
9/443. Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?We report two children of nonconsanguineous parents, with hypotonia, severe psychomotor retardation, short stature, a prominent forehead, ptosis, a wide flat nasal bridge, broad nasal tip, a high arched palate, bilateral small cerebellar hemispheres, vermis hypoplasia, a large cisterna magna, and an atrial septal defect and a duodenal stenosis in one case. These features are part of the 3C syndrome. The duodenal stenosis present in one of our sibs has not been reported before in this syndrome.- - - - - - - - - - ranking = 2keywords = stenosis (Clic here for more details about this article) |
10/443. Unguarded mitral orifice, mirror-imaged atrial arrangement, and discordant atrioventricular connections.We report two autopsy proven cases of unguarded mitral orifice associated with mirror-imaged atrial arrangement, discordant atrioventricular connections, double outlet right ventricle, pulmonary valvar stenosis or atresia, and atrialisation of the morphologically left ventricle. The morphologically left atrioventricular junction was devoid of valvar leaflets, and there was no tension apparatus within the ventricle. To the best of our knowledge, this is the first description of this rare cardiac malformation.- - - - - - - - - - ranking = 1keywords = stenosis (Clic here for more details about this article) |
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