Results 1 to 10 of about 225,202 (184)
Congenital laryngeal anomalies,
Brazilian Journal of Otorhinolaryngology, 2014 Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway.
Michael J. Rutter
doaj +4 more sources
Factors Associated with Neonatal Mortality in the Neonatology Department of the Regional Hospital Center, AGADIR, MOROCCO [PDF]
Iranian Journal of Neonatology, 2023 Background: Neonatal mortality is a major public health problem and concern worldwide. Despite significant improvement, the neonatal mortality rate is still high.
Mina EL Hiyani +3 more
doaj +1 more source
Trends and Characteristics of Mortality Associated with Congenital Anomalies in Korean Children under 5 Years of Age [PDF]
Neonatal Medicine, 2021 Purpose Studies have been conducted on the prevalence and infant mortality rate of congenital anomalies; however, studies on child mortality are rare.
Soo Bin Kim +5 more
doaj +1 more source
Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
Orphanet Journal of Rare Diseases, 2021 Background Rare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health issue globally.
Francesca Gorini +5 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 Aims Dozens of causative genes and their mechanisms of nonsyndromic cleft lip with or without cleft palate (NSCL/P) were revealed through genome‐wide association and linkage studies.
Duc Minh Nguyen +10 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Background: In Europe, about 76% of cases of chromosomal anomalies are prenatally diagnosed. Prenatal diagnosis allows more efficient planning of postnatal treatment and helps parents for an informed decision about the continuation of pregnancy. The main
Michele Santoro +6 more
doaj +1 more source
Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]
, 2005 BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E. +2 more
core +7 more sources
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report [PDF]
Iranian Journal of Medical Sciences, 2019 Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral ...
Lorena Díaz-Ordoñez +4 more
doaj +1 more source
Prevalence of Congenital Anomalies in the Northwest of Iran [PDF]
Taṣvīr-i salāmat, 2021 Background and Objectives Every year, about three hundred thousands of infant deaths occur because of congenital anomalies. Some continue to live with various types of disabilities. Low and middle income countries have higher rate of congenital anomalies.
Faezeh Tarighat +2 more
doaj +1 more source
Health Promotion and Chronic Disease Prevention in Canada, 2023 IntroductionCurrent published long-term provincial or territorial congenital anomaly data are lacking for Canada. We report on prevalence (per 1000 total births) and trends in 1997–2019, in Alberta, Canada, for selected congenital ...
R. Brian Lowry +9 more
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