Search results for " malformation"
showing 5 items of 185 documents
An unusual association of left‐sided gastroschisis and persistent right umbilical vein
2018
Key Clinical Message Gastroschisis is a full‐thickness congenital abdominal wall defect usually occurring to the right of the umbilicus. About twenty cases of left‐sided gastroschisis have been reported, without reference to the laterality of the umbilical vein. This first case highlights the importance of considering and reporting this association by the perinatal team.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Occurrence of oro-facial malformations in a tertiary center hospital of Southern Italy: retrospective study on ten thousand newborns
2015
Congenital anomalies (CA) are one of the major cause of infant mortality and childhood morbitity, affecting 2-3% of all babies. Approximately 1% of these newborns have syndromes or multiple anomalies; Cranio-facial anomalies are often a component part of these pathologies. Several newborns with cranio-facial anomalies are affected by syndromes composed of multiple malformations thought to be etiologically and/ or pathogenetically related. One of the most frequent sign of these syndromes is the cleft lip and/or cleft palate. It is estimated that 30% of cleft cases are syndromic and conversely, therefore, approximately 70% are non-syndromic. Oral clefts are among the most widely known and com…
MR Imaging of Uterus Didelphys Transverse Vaginal Septum Causing Hematometrocolpos and Renal Agenesis
2002
The association of uterus didelphys and unilateral blind vagina with ipsilateral renal agenesis is an infrequent urogenital malformation distinguished by a lesion of the mesonephric duct. In most patients, symptoms are present at the beginning of the menstrual cycle because a transverse vaginal septum on one side obstructs the flow of menses, which consequently collect. Magnetic resonance imaging allows a precise delineation of this congenital abnormality, clearly demonstrating the transverse vaginal septum with hematometrocolpos and uterus didelphys. Extending the magnetic resonance study to the abdomen and employing coronal sections with a wide field of view is important to search for ass…
Fertility and immunosuppression in allogeneic uterus transplantation
2015
A pesar de los avances en medicina reproductiva alcanzados durante las últimas tres décadas, la esterilidad absoluta de origen uterino (AUFI, por sus siglas en inglés), a día de hoy, carece de tratamiento. Ésta, puede ser causada tanto por la ausencia del útero (congénita o adquirida) o la no funcionalidad del mismo [1, 2]. Cálculos en el Reino Unido han demostrado que hay alrededor de 12000 a 15000 mujeres en edad reproductiva con infertilidad uterina en dicho país [3]. No hay cálculos correspondientes a España, pero extrapolando datos sobre prevalencia de causas de AUFI, se estima que puede haber alrededor de 2000-3000 mujeres en edad fértil que no tienen ninguna oportunidad de ser biológ…