Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants. Issue 12 (15th December 2022)

• Record Type: Journal Article
• Authors: Pavone, Piero; Saia, Federica; Pappalardo, Xena; Barbagallo, Massimo; Prato, Adriana; Rizzo, Renata
• Is Part Of: Clinical case reports. Volume 10:Issue 12(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-12-15
• Subjects: Chiari malformation type 1 -- developmental delay -- hydrocephalus -- SON gene -- Zhu‐Tokita‐Tachenouchi‐Kim syndrome (ZTTK); Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.6529
• Languages: English
• ISSNs: 2050-0904

Abstract

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 : Zhu‐Tokita‐Tachenouchi‐Kim syndrome (ZTTK) is a severe malformation syndrome characterized by craniofacial dysmorphism, developmental delay/intellectual disability, seizures, anomalies involving brain white matter, and other body‐organs. The disorder is linked to the loss‐of‐function variants in the SON gene (MIM# 617140).