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Article

Clinical and Oral Manifestations in a Patient with Lenz-Majewski Syndrome: A Rare Case Report.

BMC oral health - 24 Sept 2025

Bayram Merve, Akgöl Beyza Ballı, Çetin Ece, Ceylan Gülsüm

Abstract excerpt

BACKGROUND: Lenz-Majewski Syndrome (LMS) is a rare multisystem genetic disorder characterized by intellectual disability, cutis laxa, craniofacial abnormalities, and distinct dental features. It is caused by gain-of-function mutations in the Phosphatidylserine Synthase 1 (PTDSS1) gene, which plays a key role in phospholipid biosynthesis. Among the craniofacial and dental manifestations, a progeroid facial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40993826
DOI: 10.1186/s12903-025-06785-7
PMCID: PMC12462183

Genes

PTDSS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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