A rare prenatal diagnosis: congenital absence of aortic valve.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951122000919
Abstract: Congenital absence of the aortic valve is characterised by the absence of aortic valve and severe regurgitation. The rest of the reported cases were mostly diagnosed either on postnatal echocardiography or autopsy. Here, we present… read more here.
Keywords: congenital absence; absence aortic; aortic valve; rare prenatal ... See more keywords
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000342
Abstract: Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the cause of this… read more here.
Keywords: absence flexor; congenital absence; mycn gene; feingold syndrome ... See more keywords
Congenital absence of the right coronary artery
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DOI: 10.1097/md.0000000000010187
Abstract: Rationale: Congenital absence of the right coronary artery (RCA) is a rare congenital malformation of the cardiovascular system which may have fatal consequences. Patient concerns: A 63-year-old man with a 5-year history of chest pain… read more here.
Keywords: congenital absence; artery; coronary artery; absence right ... See more keywords
Congenital absence of the penis (aphallia)
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000015129
Abstract: Rationale: Absence of the penis, known as aphallia, is a very rare congenital anomaly. It is believed to be a result of either the absence of the genital tubercle or its failure to fully develop… read more here.
Keywords: medicine; absence; penis aphallia; penis ... See more keywords
Comorbidity of the congenital absence of the vas deferens
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DOI: 10.1111/and.12994
Abstract: Congenital absence of the vas deferens (CAVD) is a relatively rare anomaly that may contribute to male infertility. The aim of this study was to evaluate the clinical features of patients with CAVD and to… read more here.
Keywords: comorbidity congenital; congenital absence; absence vas; vas deferens ... See more keywords
Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles
Sign Up to like & getrecommendations! Published in 2019 at "Andrology"
DOI: 10.1111/andr.12592
Abstract: Congenital absence of vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations in CFTR and ADGRG2 are responsible for this disease. However, until now the genetic spectrum of the CFTR and ADGRG2 genes… read more here.
Keywords: congenital absence; vas deferens; genetic spectrum; absence vas ... See more keywords
Cystic biliary atresia with congenital absence of portal vein
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DOI: 10.1136/bcr-2020-239205
Abstract: A 126-day female child presented with jaundice since day 7 of life. She was icteric and had hepatosplenomegaly. Radiological investigations revealed three extrahepatic and multiple intrahepatic biliary cysts, absent gall bladder and portal vein. These… read more here.
Keywords: congenital absence; vein; cystic biliary; portal vein ... See more keywords
Congenital absence of norepinephrine due to CYB561 mutations
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DOI: 10.1212/wnl.0000000000008734
Abstract: Objective Cytochrome b561 (CYB561) generates ascorbic acid, a cofactor in the enzymatic conversion of dopamine to norepinephrine by dopamine β-hydroxylase. We propose that the clinical relevance of this pathway can be revealed by characterizing the… read more here.
Keywords: cyb561; norepinephrine due; cyb561 mutations; congenital absence ... See more keywords
Congenital absence of the right coronary artery: A case report
Sign Up to like & getrecommendations! Published in 2022 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v10.i34.12799
Abstract: BACKGROUND As a rare anomaly, congenital absence of the right coronary artery (RCA) occurs during the development of coronary artery. Patients with congenital absence of the RCA often show no clinical symptoms, and this disease… read more here.
Keywords: coronary artery; congenital absence; absence; absence rca ... See more keywords
Isolated congenital absence of bilateral femur: A rare case report with antenatal diagnosis and postnatal follow-up
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Imaging Science"
DOI: 10.25259/jcis_219_2021
Abstract: We report a rare case of isolated congenital absence of the bilateral femur diagnosed antenatally in an 18-19 weeks fetus on a level II scan. The bilateral femur bones were not visualized with normal bilateral… read more here.
Keywords: isolated congenital; absence bilateral; congenital absence; rare case ... See more keywords
Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1035468
Abstract: Congenital absence of the vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations of CFTR and ADGRG2 cause the majority of CAVD. Despite this, 10%–20% of CAVD patients remain without a clear genetic… read more here.
Keywords: vas deferens; absence vas; congenital absence; cavd ... See more keywords