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Novel malformations: Chiari type 1 and hydrocephalus in Zhu‐Tokita‐Takenouchi‐Kim syndrome and novel SON variants.
- Source :
-
Clinical Case Reports . Dec2022, Vol. 10 Issue 12, p1-6. 6p. - Publication Year :
- 2022
-
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]
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 10
- Issue :
- 12
- Database :
- Academic Search Index
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- 161085271
- Full Text :
- https://doi.org/10.1002/ccr3.6529