Article
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Genes - 17 Aug 2021
Kutkowska-Kaźmierczak Anna, Boczar Maria, Kalka Ewa, Castañeda Jennifer, Klapecki Jakub, Pietrzyk Aleksandra, Barczyk Artur, Malinowska Olga, Landowska Aleksandra, Gambin Tomasz, Kowalczyk Katarzyna, Wiśniowiecka-Kowalnik Barbara, Smyk Marta, Dawidziuk Mateusz, Niepokój Katarzyna, Paczkowska Magdalena, Szyld Paweł, Lipska-Ziętkiewicz Beata, Szczałuba Krzysztof, Kostyk Ewa, Runge Agata, Rutkowska Karolina, Płoski Rafał, Nowakowska Beata, Bal Jerzy, Obersztyn Ewa, Gos Monika
Abstract excerpt
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a mutation in the ANKRD11 gene or a chromosomal rearrangement involving this gene. We hereby present clinical evaluations of 23 patients aged 4 months to 26 years...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.