Article

Skeletal Survey of a Filipino Teenage Female with Ohdo syndrome: Case Report

2025-07-24

Abstract excerpt

<h4>Introduction: </h4> Ohdo syndrome is a rare congenital disorder occurring in less than 1 in a million individuals, characterized by intellectual disability, craniofacial abnormalities, as well as appendicular abnormalities. Caused by pathogenic variants in KAT6B, the orphan syndrome suffers from a paucity of reported cases, with less than 30 cases reported worldwide. Here, we present detailed skeletal survey f...

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Literature Corpus work: 4515cc38-f082-510a-92ca-bbfcc1575d41
DOI: 10.1590/scielopreprints.12720

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