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  • Title: Novel malformations: Chiari type 1 and hydrocephalus in Zhu-Tokita-Takenouchi-Kim syndrome and novel SON variants.
    Author: Pavone P, Saia F, Pappalardo X, Barbagallo M, Prato A, Rizzo R.
    Journal: Clin Case Rep; 2022 Dec; 10(12):e6529. PubMed ID: 36540882.
    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.
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