Risk factors for hospitalisation in Welsh infants with a congenital anomaly [PDF]
BMJ Paediatrics Open, 2022 Jennifer J Kurinczuk +3 more
doaj +2 more sources
Frontiers in Pediatrics, 2021 Background: Hypoplastic Left Heart Syndrome (HLHS) is a severe congenital heart defect (CHD) characterised by the underdevelopment of the left side of the heart with varying levels of hypoplasia of the left atrium, mitral valve, left ventricle, aortic ...
Kate E. Best +6 more
doaj +1 more source
Behçet’s disease in Wales: an epidemiological description of national surveillance data
Orphanet Journal of Rare Diseases, 2022 Objectives Behçet’s disease is a rare, chronic, incurable, multisystemic disease. It causes significant morbidity, with patients experiencing symptoms including mucous membrane ulcers, and joint pain and swelling.
Annie Ashman +3 more
doaj +1 more source
Congenital absence of superior vena cava – case report and review of the literature [PDF]
Romanian Journal of Pediatrics, 2020 Superior vena cava (SVC) agenesis or total congenital absence of superior vena cava is a very rare vascular anomaly, mainly asymptomatic throughout neonatal period.
Andreea Vidru +7 more
doaj +1 more source
The first 3D analysis of the sphenoid morphogenesis during the human embryonic period
Scientific Reports, 2022 The sphenoid has a complicated shape, and its morphogenesis during early development remains unknown. We aimed to elucidate the detailed morphogenesis of the sphenoid and to visualize it three-dimensionally using histological section (HS) and phase ...
Natsuko Utsunomiya +5 more
doaj +1 more source
Congenital fusion of cervical vertebrae: a review on embryological etiology [PDF]
Reviews in Clinical Medicine, 2016 Congenital fusion of cervical vertebrae is a rare anomaly. In this condition, two fused vertebrae appear structurally and functionally as one. This anomaly may be symptomatic or asymptomatic.
Mohammad Mardani +2 more
doaj +1 more source
Congenital midline cervical cleft – A case report on a rare anomaly of the neck
Journal of Indian Association of Pediatric Surgeons, 2022 Congenital midline cervical cleft is a rare congenital anomaly of the neck of uncertain embryological origin, with around 205 cases reported in literature. We report the case of an 8-year-old girl who presented with the same anomaly.
C S Vidhya Annapoorni, Sam Varkey
doaj +1 more source
Accuracy of Polyhydramnios for Detection of Fetal Anomalies on Ultrasound
Pakistan Armed Forces Medical Journal, 2023 Objective: To determine the diagnostic accuracy of polyhydramnios for detecting fetal anomalies on ultrasound in singleton pregnancies. Study Design: Cross-sectional study.
Iram Mohsin +4 more
doaj +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +7 more sources
Risk estimates of recurrent congenital anomalies in the UK: a population-based register study [PDF]
, 2017 BACKGROUND: Recurrence risks for familial congenital anomalies in successive pregnancies are known, but this information for major structural anomalies is lacking. We estimated the absolute and relative risks of recurrent congenital anomaly in the second
A Christianson +29 more
core +1 more source