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Genetics
Variable expressivity of Malan syndrome
  1. Atanu Kumar Dutta
  1. Biochemistry, All India Institute of Medical Sciences, Kalyani, Kalyani, West Bengal, India
  1. Correspondence to Dr Atanu Kumar Dutta; atanu.biochem{at}aiimskalyani.edu.in

Abstract

We describe the family of a patient with developmental delay, macrocephaly, dysmorphic facial features and autism. His mother also shared similar facial features and macrocephaly but not his neurobehavioural issues. Subsequently, both the child and his mother were found to have a heterozygous frameshift variant NFIX: c.34_41dupGGGATACC. The child and his mother had many features consistent with a genetic diagnosis of Malan syndrome. Therefore, this family highlighted the variable expressivity of Malan syndrome.

  • Pediatrics
  • Genetics

https://doi.org/10.1136/bcr-2024-260787

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    Footnotes

    • Contributors The guarantor is AKD. The following author was responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: AKD. The following author gave the final approval of the manuscript: AKD.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.