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J Pediatr Genet 2021; 10(01): 049-052
DOI: 10.1055/s-0040-1701645
Case Report

Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome

Valentina Bruni
1   Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy
,
Cristina Scozzafava
1   Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy
,
Maria Gnazzo
2   Laboratory of Medical Genetics, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy
,
Francesca Parisi
1   Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy
,
Simona Sestito
1   Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy
,
Licia Pensabene
1   Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy
,
Antonio Novelli
2   Laboratory of Medical Genetics, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy
,
Daniela Concolino 
1   Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy
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Abstract

Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatoglyphic abnormalities, and postnatal growth deficiencies. Cardiac and urological malformations are commonly present in patient with KS, as well as language deficits and immunological abnormalities. Here, we reported a case of a child with an atypical form of KS, associated with macrodontia, corpus callosum dysmorphism, focal epilepsy responsive to antiepileptic treatment, and a novel KMT2D gene missense variant, c.2413C > T, never reported to date.

Keywords

Kabuki syndrome - KMT2D gene - focal epilepsy


Publikationsverlauf

Eingereicht: 01. Oktober 2019

Angenommen: 10. Januar 2020

Artikel online veröffentlicht:
17. Februar 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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