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Case Reports
. 2024 Oct 17;17(10):e260787.
doi: 10.1136/bcr-2024-260787.

Variable expressivity of Malan syndrome

Atanu Kumar Dutta  1
Affiliations
Case Reports

Variable expressivity of Malan syndrome

Atanu Kumar Dutta. BMJ Case Rep. .

Retraction 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.

Keywords: Genetics; Pediatrics.

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Competing interests: None declared.

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