Congenital abnormalities associated with microtia: A 10-YEARS retrospective study.
Sign Up to like & getrecommendations! Published in 2021 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2021.110764
Abstract: OBJECTIVE Microtia is a congenital auricular malformation, often part of a syndromic form (35%-55% of cases). The accurate prevalence of associated malformations remains to be determined with regard to the heterogeneous results of the previous… read more here.
Keywords: associated microtia; study; microtia years; congenital abnormalities ... See more keywords
[Congenital abnormalities of the optic disc].
Sign Up to like & getrecommendations! Published in 2019 at "Journal francais d'ophtalmologie"
DOI: 10.1016/j.jfo.2018.09.011
Abstract: Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among… read more here.
Keywords: disc head; abnormalities optic; congenital abnormalities; optic disc ... See more keywords
Congenital abnormalities of the retinal vasculature in neurofibromatosis type I
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-69852-9
Abstract: The aim of this cross-sectional study was to investigate congenital abnormalities of the retinal vasculature (CARVs) in patients with neurofibromatosis type I (NF-1). Forty-eight patients (96 eyes) with NF-1 diagnosed according to the National Institutes… read more here.
Keywords: abnormalities retinal; vasculature; retinal vasculature; neurofibromatosis type ... See more keywords
Positive correlation between pesticide sales and central nervous system and cardiovascular congenital abnormalities in Brazil
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Environmental Health Research"
DOI: 10.1080/09603123.2017.1373272
Abstract: Abstract Background: This study investigated the association between pesticide exposure in Brazil (2005–2013) with rates of central nervous system (CNS) and cardiovascular system (CVS) congenital abnormalities in 2014. Method: An exposure variable was established from… read more here.
Keywords: nervous system; central nervous; pesticide; group ... See more keywords
G273(P) Developing a core outcome set for a congenital abnormalities surveillance program in rwanda – a delphi consensus study
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-rcpch.265
Abstract: Aims Globally, more then 3 00 000 newborns die annually within the neonatal period due to congenital anomalies. The aim of this study was to develop a methodologically robust Core Outcome Set (COS) for a congenital abnormalities… read more here.
Keywords: outcome set; core outcome; congenital abnormalities; round ... See more keywords
Impact of maternal hepatitis B carrier status on congenital abnormalities: a systematic review and meta-analysis
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Open"
DOI: 10.1136/bmjopen-2022-066017
Abstract: Objectives This study aims to explore whether maternal hepatitis B carrier status is associated with an increased risk of congenital abnormalities. Design A systematic review and meta-analysis of observational studies. Data sources PubMed, Embase (Ovid),… read more here.
Keywords: carrier status; maternal hepatitis; congenital abnormalities;
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-106867
Abstract: Purpose Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than in live birth… read more here.
Keywords: exome sequencing; multiple congenital; genotype; fetuses multiple ... See more keywords
DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities
Sign Up to like & getrecommendations! Published in 2022 at "JCI Insight"
DOI: 10.1172/jci.insight.161214
Abstract: Maternal hyperthyroidism is associated with an increased incidence of congenital abnormalities at birth, but it is not clear which of these defects arise from a transient developmental excess of thyroid hormone and which depend on… read more here.
Keywords: cranio encephalic; dio3; thyrotoxicosis; congenital abnormalities ... See more keywords
Congenital Abnormalities in the Infant of a Diabetic Mother.
Sign Up to like & getrecommendations! Published in 2022 at "NeoReviews"
DOI: 10.1542/neo.23-5-e319
Abstract: Diabetes mellitus is among the most common chronic diseases worldwide. Infants of diabetic mothers are at increased risk of having congenital abnormalities. Tremendous progress has been achieved in the pregnancy care of diabetic women; however,… read more here.
Keywords: infant diabetic; abnormalities infant; maternal diabetes; diabetic mother ... See more keywords