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        11-20 of 86 results for 'Baynam'

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        Research

        Congenital anomalies in children with postneonatally acquired cerebral palsy: an international data linkage study

        To describe the major congenital anomalies present in children with postneonatally acquired cerebral palsy (CP), and to compare clinical outcomes and cause of postneonatally acquired CP between children with and without anomalies. ...

        Research

        Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

        Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome. ...

        Research

        Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

        Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. ...

        Research

        The Human Phenotype Ontology in 2021

        The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. ...

        Research

        Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China

        In China, there are severe unmet medical needs of people living with rare diseases. Relatedly, there is a dearth of data to inform rare diseases policy. This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechanisms and network; and concerns over patient privacy protection. ...

        Research

        Birth prevalence of congenital heart defects in Western Australia, 1990–2016

        We describe the birth prevalence and characteristics of congenital heart defects in a geographically defined Australian population. This descriptive, population-based study examined congenital heart defects in live births, stillbirths and pregnancy terminations ascertained by the Western Australian Register of Developmental Anomalies, 1990-2016. ...

        Research

        Outcomes of an international workshop on preconception expanded carrier screening: Some considerations for governments

        Consideration of expanded carrier screening has become an emerging issue for governments. ...

        Research

        3D Face Reconstruction with Mobile Phone Cameras for Rare Disease Diagnosis

        Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances. ...

        Research

        A call for global action for rare diseases in Africa

        The outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health ...

        Research

        Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

        Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants with EA are locally or regionally based. We aimed to describe survival across multiple world regions. We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research. ...

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