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Article

Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review

Journal of clinical research in pediatric endocrinology - 22 May 2026

Li Lele, Gong Chunxiu

Abstract excerpt

Weiss-Kruszka syndrome (WSKA; OMIM#618619) is a rare condition with multiple congenital anomalies. This study describes a patient with WSKA from Northern China. The patient was a 9.75-year-old boy who presented with growth retardation (growth velocity: 3-4 cm/year at school age), delayed motor and speech development, and eating difficulty. The patient’s weight was 22 kg (<3rd percentile), and his height was 125.6...

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Identifiers

PMID: 40105472
DOI: 10.4274/jcrpe.galenos.2024.2024-8-4
PMCID: PMC13197104

Genes

ZNF462

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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