Atypical Manifestations of Rett Syndrome: Macrocephaly and Hyperostosis Frontalis Interna in a Female Patient

Abstract excerpt

Rett syndrome is a rare neurodevelopmental disorder caused by mutations in the MECP2 gene on the X chromosome, primarily affecting females. It is characterized by developmental regression, stereotypic hand movements, seizures, and microcephaly due to decelerated head growth. However, atypical presentations, such as macrocephaly and hyperostosis frontalis interna (HFI), are rarely reported. HFI, defined as abnormal...

Topics

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• Body Height
• Chromosomal Proteins, Non-Histone
• Evaluation Studies as Topic
• Hand
• Head
• Methyl-CpG-Binding Protein 2
• Mutation
• Rett Syndrome

Identifiers and source

Literature Corpus work

2158748e-5dc6-589e-a9bf-165de24af478

DOI

10.20944/preprints202501.1673.v1