The "elfin facies", described by Williams and Beuren, is usually associated, beside mental retardation, with a supravalvular aortic stenosis and, more broadly, with multiple arterial stenoses. Other types of cardiac defects were described in this context, but the case reported by the authors is the first one with a tetralogy of Fallot. The hypothesis of widerspread histodysplastic lesions is discussed: the process may be early enough to alter the morphogenesis of the cardiac conus and to produce, more lately, the classical stenotic lesions of the arterial wall.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
View Article and Find Full Text PDFWork Participation of Autistic Adolescents.
Intellect Dev Disabil
February 2025
Michelle Menezes, Jessica Pappagianopoulos, and Micah O. Mazurek, University of Virginia.
This study sought to compare frequency of paid work by autistic adolescents to paid work by adolescents with other neurodevelopmental disorders and typically developing adolescents, and to examine whether demographic and clinical characteristics were associated with autistic adolescent employment with data from 2016-2019 National Survey of Children's Health. Rate of paid work was significantly lower in the autistic group (22.01%) than typically developing (49.
View Article and Find Full Text PDFPregnancy and postnatal outcomes for women with intellectual disability and their infants: A systematic review.
Midwifery
January 2025
Social Genetic and Developmental Psychiatry, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Background: While the perinatal period is a vulnerable time for women and their infants, it is also a window to promote adjustment and support. Women with intellectual disability might be a uniquely vulnerable group owing to pre-existing health and care inequalities. The aim of this paper is to explore the pregnancy and postnatal outcomes of women with intellectual disability and the health and development of their infants.
View Article and Find Full Text PDFEvaluating Sex Differences in Language Abilities Within Down Syndrome and Autism Spectrum Disorder.
Intellect Dev Disabil
February 2025
Manisha Udhnani, The Ohio State University; and Nancy Raitano Lee, Drexel University.
Down syndrome (DS) and autism spectrum disorder (ASD) are two neurodevelopmental disorders characterized by impairments in language. Most studies do not consider the possible role sex differences may play in language profiles. Thus, the current study aimed to evaluate whether parent-reported structural and pragmatic language vary as a function of sex in youth with DS (n = 37), ASD (n = 106), and typical development (TD; n = 61).
View Article and Find Full Text PDFExploring Oral Narrative Abilities of Chilean School-Age Children With Down Syndrome: A Preliminary Study.
Intellect Dev Disabil
February 2025
Victoria Sánchez-Gómez, Institute for Community Inclusion (INICO), University of Salamanca, Spain, Antonio M. Amor González, INICO, University of Salamanca, Spain, Laura Zampini, University of Milano-Bicocca, Italy, Miguel Ángel Verdugo, INICO, University of Salamanca, Spain, María Isabel Calvo, INICO, University of Salamanca, Spain.
Narrative abilities are essential for school achievement and quality of life, yet children with Down syndrome (DS) often struggle with these skills. This work explores the oral narrative abilities of school-age Chilean children with DS. The participants were 11 children with DS aged between 7;2 and 12;1 (years; months).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!