Search results for "Malformation"
showing 10 items of 208 documents
Female pelvic congenital malformations
2011
A B S T R A C T The second part of this review deals with the quality of life of patients with congenital pelvic malformations, focusing on the sexuality, reproductive outcomes and overall psychological impact of the women affected. The presence of deformed pelvic anatomy, congenital or iatrogenic, and therefore of altered urinary, anal or sexual functions, are not only a physical limitation but seriously compromise psychological health from childhood. These difficulties jeopardise the thorny path from childhood to adult life through adolescence, and if neglected, could be responsible for seriously impairing quality of life in adulthood, in terms of mental health and psychosocial functions.…
Dydrogesterone use during pregnancy: Overview of birth defects reported since 1977
2009
Between 1977 and 2005, 28 cases of potential links between maternal dydrogesterone use during pregnancy and congenital birth defects were reported. The types of defects were very diverse, with no evidence of a pattern of abnormalities. The data do not provide evidence for congenital malformations associated with dydrogesterone use.
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…
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…
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…
Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
2013
Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL a…
The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe
2015
BACKGROUND: In the context of the European Surveillance of Congenital Anomalies (EUROCAT) surveillance response to the 2009 influenza pandemic, we sought to establish whether there was a detectable increase of congenital anomaly prevalence among pregnancies exposed to influenza seasons in general, and whether any increase was greater during the 2009 pandemic than during other seasons.METHODS: We performed an ecologic time series analysis based on 26,967 pregnancies with nonchromosomal congenital anomaly conceived from January 2007 to March 2011, reported by 15 EUROCAT registries. Analysis was performed for EUROCAT-defined anomaly subgroups, divided by whether there was a prior hypothesis of…
Resection of Brainstem Cavernous Malformations: Pearls and Pitfalls for Minimizing Complications
2022
BACKGROUND: Surgical management of brainstem cavernous malformations (CMs) is a controversial topic in the field of neurosurgery. These lesions have a propensity to hemorrhage, thereby disrupting surrounding brainstem eloquence.METHODS: This article provides the personal reflections are senior author and a narrative literature review on resection of brainstem CMs.RESULTS: Here we discuss the indications for microsurgery, microsurgical techniques and nuances, and perioperative management considerations necessary to minimize complications during resection of brainstem CMs, which are lesions of venous origin.CONCLUSIONS: The natural history of the lesion, risk of future hemorrhage, and potenti…
Devenir des enfants issus des techniques d’assistance médicale à la procréation
2013
Since the birth of the first baby conceived by in vitro fertilization (IVF) 30 years ago (Louise Brown in 1978), there has been a rapid and constant increase in the number of couples using assisted reproductive technologies (ART). Around four million of children have been born from couples experiencing fertility problems, through the use of ART, comprising roughly 2-3 % of all births in Europe and U.S. That highlights that these modes of fertilization are now well assumed by our societies. However, several questions on health of these children remain to be elucidated. As evoked in this review, even if methodological limitations exist, numerous studies have reported increased risks of birth …