Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights
Sign Up to like & getrecommendations! Published in 2022 at "Birth Defects Research"
DOI: 10.1002/bdr2.2003
Abstract: About 20%–30% of children with birth defects have multiple major birth defects in more than one organ system, often referred to as multiple congenital anomalies (MCAs). Evaluating the patterns of MCAs can provide clues to… read more here.
Keywords: birth defects; birth; multiple congenital; congenital anomalies ... See more keywords
Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2
Sign Up to like & getrecommendations! Published in 2024 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6560
Abstract: We report a 32‐year‐old G3P1 at 35 weeks 3 days with a dichorionic, diamniotic twin gestation who presented for evaluation secondary to ventriculomegaly (VM) in one twin. Fetal ultrasound and MRI demonstrated microcephaly, severe VM,… read more here.
Keywords: anomaly syndrome; variant atp1a2; multiple congenital; affected twin ... See more keywords
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2020.09.005
Abstract: PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent protein kinase (PKA), a pleiotropic holoenzyme that regulates numerous fundamental biological processes such as metabolism, development, memory, and immune response. We report… read more here.
Keywords: malformation syndrome; multiple congenital; prkacb; prkaca prkacb ... See more keywords
De novo congenital malformation frequencies in children from the Bryansk region following the Chernobyl disaster (2000–2017)
Sign Up to like & getrecommendations! Published in 2020 at "Heliyon"
DOI: 10.1016/j.heliyon.2020.e04616
Abstract: Background Ionizing radiation and chemical pollution can disrupt normal embryonic development and lead to congenital malformations and fetal death. We used official government statistical data for 2000–2017 to test the hypothesis that radioactive and chemical… read more here.
Keywords: multiple congenital; 2000 2017; radioactive chemical; chemical pollutants ... See more keywords
A rare case of surgically managed multiple congenital thoraco-lumbar and lumbar block vertebrae with kypho-scoliosis and adjacent segment disease with myelopathy in a young female.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of clinical orthopaedics and trauma"
DOI: 10.1016/j.jcot.2019.04.017
Abstract: Spinal block vertebrae is a rare condition reported in 0.25% of South Asian population. This condition may not only result in deformity of lower back but also alter the bio-mechanics of spine leading to adjacent… read more here.
Keywords: block vertebrae; lumbar; congenital thoraco; multiple congenital ... See more keywords
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
Sign Up to like & getrecommendations! Published in 2024 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2317601121
Abstract: Heterozygous missense variants in TRAF7 lead to various can - cers when somatic and a multiple congenital anomalies - - intellectual disability syndrome (MCA - IDS) when germline (1, 2). Variants are predominantly within the… read more here.
Keywords: intellectual disability; heart defects; multiple congenital; congenital anomalies ... See more keywords
Disseminated Congenital Malignant Rhabdoid Tumor Misdiagnosed as Multiple Congenital Hemangiomas.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001587
Abstract: To the Editor: A congenital malignant rhabdoid tumor (MRT) is a rare and aggressive growth, which is fatal in almost all patients under the age of 1 year.1 A 1-day-old girl, born at term by… read more here.
Keywords: malignant rhabdoid; congenital hemangiomas; multiple congenital; congenital malignant ... See more keywords
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14340
Abstract: Glycosylphosphatidylinositol-anchored proteins are involved in multiple physiological processes and the initial stage of their biosynthesis is mediated by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY, and DMP2 genes, which have been linked to a wide spectrum… read more here.
Keywords: anomalies hypotonia; pigp gene; multiple congenital; congenital anomalies ... See more keywords
Multiple congenital ocular anomalies in three related litters of Jack Russell Terrier puppies.
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DOI: 10.1111/vop.13221
Abstract: OBJECTIVE To describe multiple congenital ocular anomalies in three litters of Jack Russell Terrier puppies. ANIMALS STUDIED Seven purebred Jack Russell Terrier puppies from three related litters and their four parents. PROCEDURES Medical records of… read more here.
Keywords: jack russell; multiple congenital; terrier puppies; russell ... See more keywords
Multiple congenital vascular lesions in a newborn: a diagnostic challenge
Sign Up to like & getrecommendations! Published in 2023 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2022-324681
Abstract: We present a newborn, delivered at week 38 of gestation because of pathological cardiotocographic record with an Apgar score of 1 point at 1 and 5 min of birth, requiring resuscitation. Skin examination revealed multiple… read more here.
Keywords: mallorca spain; son espases; multiple congenital; palma mallorca ... See more keywords
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