Zhu-Tokita-Takenouchi-Kim syndrome in a neonate

LIU Wei-Na; PI Ya-Lei; BAI Xing-Yu; CHEN Hui-Fen

doi:10.7499/j.issn.1008-8830.2409076

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Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (3) : 373-376. DOI: 10.7499/j.issn.1008-8830.2409076

CASE REPORT

Zhu-Tokita-Takenouchi-Kim syndrome in a neonate

LIU Wei-Na, PI Ya-Lei, BAI Xing-Yu, CHEN Hui-Fen

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Abstract

The patient is a male neonate born at term. He was admitted 16 minutes after birth due to stridor and inspiratory respiratory distress. Physical examination revealed a cleft palate, and a grade II systolic ejection murmur was audible at the left sternal border. Whole exome sequencing identified a heterozygous variant in the SON gene, c.5753-5756del (p.Val1918GlufsTer87), which was absent in either parent, indicating a de novo mutation. According to the guidelines of the American College of Medical Genetics and Genomics, this was classified as a "pathogenic variant" leading to a diagnosis of Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome. Upon admission, symptomatic supportive treatment was provided. Follow-up at the age of 8 months revealed persistent stridor; the infant could only consume small amounts of milk and was unable to sit steadily. This patient represents the youngest reported case to date, and his symptoms expand the clinical spectrum of the disease, providing valuable insights for clinical diagnosis and treatment.

Key words

Zhu-Tokita-Takenouchi-Kim syndrome / SON gene / Genetic variation / Neonate

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LIU Wei-Na, PI Ya-Lei, BAI Xing-Yu, CHEN Hui-Fen. Zhu-Tokita-Takenouchi-Kim syndrome in a neonate[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(3): 373-376 https://doi.org/10.7499/j.issn.1008-8830.2409076

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