The authors describe a case of Silver-Russell Syndrome with severe deficit growth. They display the major and minor features of the syndrome, and discuss about the possible pathogenetic causes.
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Silver-Russell Syndrome in 2025: Is It Still a Distinct Diagnostic Entity?
J Clin Endocrinol Metab
January 2025
Sorbonne Université, INSERM, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, F-75012, Paris, France.
Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.
Front Genet
December 2024
Department of Obstetrics, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University, Zhangzhou, China.
Introduction: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation. The pathogenic alterations and phenotypes are heterogeneous.
Methods: Here, we present a rare pedigree of duplications with different methylation patterns in 11p15.
Hygienic behaviors and use of dental care in patients with genetic syndromes.
Sci Rep
December 2024
Department of Paediatric Dentistry, Medical University of Warsaw, St. Binieckiego 6, 02-097, Warsaw, Poland.
Patients with genetic syndromes require special dental attention because they have symptoms that promote plaque accumulation, dental erosion, dental caries and gingival diseases. The aim of the study was to assess hygienic behaviors, use of dental care and frequency of professional preventive procedures among Polish children and adolescents with Prader-Willi, Down, Angelman, Silver-Russell and Smith-Lemli-Opitz syndromes. Parents/legal guardians of children and adolescents with genetic syndromes were included.
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