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
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
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 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
Multiple congenital malformation in a Simental female calf: a case report
Sign Up to like & getrecommendations! Published in 2018 at "Veterinarni Medicina"
DOI: 10.17221/95/2010-vetmed
Abstract: Congenital anomalies in offspring of natural breedings are often a result of environmental factors, genetic factors, or both. A 21-day-old male Simental female calf was submitted to our clinic with abnormal severe green mucoid nasal… read more here.
Keywords: female calf; multiple congenital; report; simental female ... See more keywords
Multiple congenital anomalies and adverse developmental outcomes are associated with neonatal intensive care admission and unilateral hearing loss
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.1068884
Abstract: Aim To determine congenital and developmental outcomes of children with Unilateral Hearing Loss (UHL) who were admitted to the Neonatal Intensive Care Unit (NICU). Method Retrospective, single-site study that followed 25 children with permanent congenital… read more here.
Keywords: developmental outcomes; hearing loss; multiple congenital; congenital anomalies ... See more keywords
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12020263
Abstract: Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ failure. Here, we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare,… read more here.
Keywords: congenital anomalies; skin defects; linear skin; disorder ... See more keywords