Search results for "DEFECTS"
showing 10 items of 339 documents
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
2022
Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible…
Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology
1976
A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, persistent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.
Clinical Delineation Of A Subtype Of Frontonasal Dysplasia With Creased Nasal Ridge And Upper Limb Anomalies: Report Of Six Unrelated Patients
2017
IF 2.259; International audience; Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebr…
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis
2011
Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defect and developmental delay. Genotype –phenotype correlations of previously published patients have been strongly suggested anterior eye segment anomalies as one of major malformation of the syndrome if the critical 6p25 region containing the FOXC 1 gene. In addition it has been hypothesized the presence in this region of one or more genes involved in hearing loss. We report on a case of terminal 6p deletion in a 47, XYY karyotype. Further characterization of the deletion with array comparative genome hybri…
Motor development of infants with univentricular heart at the ages of 16 and 52 weeks
2013
Purpose To compare the motor development of patients with hypoplastic left heart syndrome (HLHS) and other types of univentricular heart (UVH) with peers who are healthy at the ages of 16 and 52 weeks. Methods Motor development was assessed with the Alberta Infant Motor Scale (AIMS). Results Both the 23 patients with HLHS and the 13 patients with UVH had lower total AIMS scores in both observations than the controls. At the age of 52 weeks, patients with HLHS had significantly lower scores in all 4 AIMS subscales, whereas patients with UVH had lower scores only in the prone and standing subscales. Conclusion Motor development of patients with HLHS or UVH is delayed during the first year of …
A population-based study relevant to seasonal variations in causes of death in children undergoing surgery for congenital cardiac malformations
2007
AbstractAimsOur objectives were, first, to study seasonal distribution of perioperative deaths within 30 days after surgery, and late death, in children undergoing surgery for congenitally malformed hearts, and second, to study the causes of late death.MethodsWe analysed a retrospective cohort of 1,753 children with congenital cardiac malformations born and undergoing surgery in the period from 1990 through 2002 with a special focus on the causes of late death. The data was obtained from the registry of congenital cardiac malformations at Rikshospitalet, Oslo, and the Norwegian Medical Birth Registry. The mean follow-up from birth was 8.1 years, with a range from zero to 15.2 years.ResultsD…
Reduced inotropic support after aprotinin therapy during pediatric cardiac operations
1999
Several reports indicate that aprotinin treatment before and during cardiopulmonary bypass (CPB) might have a protective effect on the myocardium. We evaluated the hemodynamic effects of perioperative aprotinin treatment.We conducted a randomized, double-blind, placebo-controlled trial in 34 infants (mean age, 2.5 years) who had cardiac operations. Half of the patients received high-dose aprotinin therapy. There were no significant differences between the aprotinin and placebo groups with respect to age, weight, sex, aortic cross-clamp time, and CPB time. The following data were recorded at arrival in the intensive care unit 6, 12, 24, and 48 hours after termination of CPB: heart rate, bloo…
Adjustable tourniquet to manipulate pulmonary blood flow after Norwood operations
2000
Abstract Background . Survival after first-stage palliative Norwood operations for single ventricle with systemic outflow obstruction is mainly dependent on a balanced ratio of pulmonary blood flow to systemic blood flow. Here we report the clinical results using a modified technique that allows a controlled systemic-to-pulmonary shunt flow to prevent pulmonary overcirculation. Methods . From 1995 to 1998, of 26 infants undergoing first-stage palliative Norwood operations, 7 had placement of an adjustable tourniquet around a modified right Blalock-Taussig shunt. Results . Hospital survival was 20 of 26 patients (77%). All 7 patients in whom snaring of the shunt was indicated survived. Two p…
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…
2013
Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…
Major Congenital Anomalies in Babies Born With Down Syndrome
2014
Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven m…