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Article

Recognizing Stuve-Wiedemann syndrome in childhood: clinical insights from 11 patients with founder and novel LIFR variants.

The Turkish journal of pediatrics - 11 Sept 2026

Ürel Demir Gizem, Açıkgöz Nazlı Büşra, Utine Gülen Eda, Şimşek Kiper Pelin Özlem

Abstract excerpt

BACKGROUND: Stuve-Wiedemann syndrome is a rare autosomal recessive bent-bone dysplasia characterized by dysautonomia and distinctive skeletal abnormalities, most commonly caused by biallelic LIFR variants. METHODS: Eleven patients from ten unrelated families with molecularly confirmed Stuve-Wiedemann syndrome were evaluated. Detailed demographic, perinatal, clinical, radiographic, and molecular data were...

Read the complete abstract on PubMed

Topics

Humans
Female
Male
Leukemia Inhibitory Factor Receptor alpha Subunit
Child, Preschool
Infant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Osteochondrodysplasias

Child

Exostoses, Multiple Hereditary

Mutation

Turkey

Source

Identifiers

PMID: 42777197
DOI: 10.24953/turkjpediatr.2026.8259

Genes

LIFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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