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Background <p>Kabuki syndrome is a rare congenital disorder with multisystem involvement and distinctive craniofacial features. While mutations in <i>KMT2D</i> and <i>KDM6A</i> are commonly associated, approximately 20–25% of patient cases lack molecular confirmation and require phenotype-based diagnosis.</p> Case presentations <p>We report a case of a 6-year-old Iranian girl presenting with multiple hallmark features of Kabuki syndrome type II, including characteristic facial morphology, skeletal anomalies, and prominent oral findings. Dental manifestations included hypodontia, malocclusion, delayed eruption, and ectopic molars. Notably, the patient also exhibited pectus excavatum, a skeletal anomaly not commonly reported in Kabuki syndrome, which expands the phenotypic spectrum. Radiographic evaluation supported the clinical diagnosis and revealed additional craniofacial anomalies.</p> Conclusion <p>This case underscores the diagnostic value of oral and skeletal features in Kabuki syndrome and highlights the importance of multidisciplinary assessment. It reinforces the role of phenotype-driven diagnosis in rare congenital disorders, particularly in patient cases lacking genetic confirmation, and documents a rare thoracic anomaly, pectus excavatum, within the clinical spectrum of Kabuki syndrome.</p>

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A certain set of signs that could be compatible with Kabuki syndrome: a case report of an Iranian girl and review of literature

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月20日

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  • Fatemeh Owlia,
  • Maryam Irannezhad,
  • Zahra Bahrololoomi,
  • Shima Mosallaeipour

摘要

Background

Kabuki syndrome is a rare congenital disorder with multisystem involvement and distinctive craniofacial features. While mutations in KMT2D and KDM6A are commonly associated, approximately 20–25% of patient cases lack molecular confirmation and require phenotype-based diagnosis.

Case presentations

We report a case of a 6-year-old Iranian girl presenting with multiple hallmark features of Kabuki syndrome type II, including characteristic facial morphology, skeletal anomalies, and prominent oral findings. Dental manifestations included hypodontia, malocclusion, delayed eruption, and ectopic molars. Notably, the patient also exhibited pectus excavatum, a skeletal anomaly not commonly reported in Kabuki syndrome, which expands the phenotypic spectrum. Radiographic evaluation supported the clinical diagnosis and revealed additional craniofacial anomalies.

Conclusion

This case underscores the diagnostic value of oral and skeletal features in Kabuki syndrome and highlights the importance of multidisciplinary assessment. It reinforces the role of phenotype-driven diagnosis in rare congenital disorders, particularly in patient cases lacking genetic confirmation, and documents a rare thoracic anomaly, pectus excavatum, within the clinical spectrum of Kabuki syndrome.