Article
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.
Clinical dysmorphology - 1 Jan 2020
Jurkiewicz Dorota, Skórka Agata, Ciara Elżbieta, Kugaudo Monika, Pelc Magdalena, Chrzanowska Krystyna, Krajewska-Walasek Małgorzata
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and predisposition to embryonal tumours. BWS results mainly from epigenetic changes at chromosome 11p15.5; however, heterozygous pathogenic variants on the maternal CDKN1C allele are observed in 5-8% of sporadic BWS cases. In this study,...
Topics
- Adult
- Alleles
- Beckwith-Wiedemann Syndrome
- Child, Preschool
- Cyclin-Dependent Kinase Inhibitor p57
- Female
- Frameshift Mutation
- Humans
- Infant
- Mutation, Missense