Article

First Case of Schuurs-Hoeijmakers Syndrome in Colombia: A Kabuki-Like Syndrome

2026-06-25

Abstract excerpt

Schuurs-Hoeijmakers syndrome, caused by pathogenic variants in PACS1, is a rare neurodevelopmental disorder characterized by intellectual disability, distinctive craniofacial dysmorphism, and multisystem involvement. A 6-year-old male presented with global developmental delay, nocturnal seizures, hypotonia, and progressive craniofacial dysmorphism, including frontal hypertrichosis, synophrys, cup-shaped ears, and...

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Literature Corpus work: 11ccf78d-ffab-5d60-9ed4-5d7076ae0529
DOI: 10.20944/preprints202606.1820.v1

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