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 <i>ANKRD11</i> Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

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 <i>ANKRD11</i> Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

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 <i>ANKRD11</i> gene o...

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Bibliographic Details
Main Authors: Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczałuba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Rafał Płoski, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
KBG syndrome
<i>ANKRD11</i> gene
16q24.3
dysmorphic syndrome
wide, delayed closing fontanels
hoarse voice
Online Access:https://www.mdpi.com/2073-4425/12/8/1257

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https://www.mdpi.com/2073-4425/12/8/1257

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