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

医学 阿珀特综合征 身材矮小 皮肤病科 遗传学 语音延迟 儿科 生物 外科 颅缝病
作者
Anna Kutkowska‐Kaźmierczak,Maria Boczar,Ewa Kalka,Jennifer Castañeda,Jakub Klapecki,Aleksandra Pietrzyk,A. Barczyk,Olga Malinowska,Aleksandra Landowska,Tomasz Gambin,Katarzyna Kowalczyk,Barbara Wiśniowiecka‐Kowalnik,Marta Smyk,Mateusz Dawidziuk,Katarzyna Niepokój,Magdalena Paczkowska,Paweł Szyld,Beata S. Lipska‐Ziętkiewicz,Krzysztof Szczałuba,Ewa Kostyk
出处
期刊:Genes [Multidisciplinary Digital Publishing Institute]
卷期号:12 (8): 1257-1257 被引量:14
标识
DOI:10.3390/genes12081257
摘要

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 manifesting clinical features of KBG syndrome. Mutation analysis in the patients was performed using panel or exome sequencing and array CGH. Besides possessing dysmorphic features typical of the KBG syndrome, nearly all patients had psychomotor hyperactivity (86%), 81% had delayed speech, 61% had poor weight gain, 56% had delayed closure of fontanel and 56% had a hoarse voice. Macrodontia and a height range of -1 SDs to -2 SDs were noted in about half of the patients; only two patients presented with short stature below -3 SDs. The fact that wide, delayed closing fontanels were observed in more than half of our patients with KBG syndrome confirms the role of the ANKRD11 gene in skull formation and suture fusion. This clinical feature could be key to the diagnosis of KBG syndrome, especially in young children. Hoarse voice is a previously undescribed phenotype of KBG syndrome and could further reinforce clinical diagnosis.
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