1. Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants.
- Author
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Pavone, Piero, Saia, Federica, Pappalardo, Xena, Barbagallo, Massimo, Prato, Adriana, and Rizzo, Renata
- Subjects
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ARNOLD-Chiari deformity , *HYDROCEPHALUS , *SYNDROMES , *GENETIC variation , *DEVELOPMENTAL delay , *EPILEPSY , *INTELLECTUAL disabilities - Abstract
Zhu‐Tokita‐Tachenouchi‐Kim syndrome (ZTTK) is a recently recognized malformation syndrome presenting with craniofacial dysmorphism, developmental delay/intellectual disability, seizures, anomalies involving brain white matter, and other body‐organs. In humans, the disorder is linked to the loss‐of‐function variants in the SON gene (MIM# 617140). Herewith, a new case of this syndrome is reported in a 2‐year‐old Caucasian child who presented the classical clinical features of the ZTTK syndrome in association with hydrocephalus and Chiari malformations type 1 an anomaly previously unreported. Exome analysis showed a de novo heterozygous variant in SON gene. Literature review of similar cases is reported. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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