Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome

We report two patients’ presentation of Kabuki syndrome caused by different KMT2D mutations, both including an interrupted/bipartite clavicle. The clinical diagnosis of Kabuki syndrome may be challenging, especially in younger patients and we suggest that the observation of a bipartite clavicle may be an additional diagnostic clue to prompt investigation for Kabuki syndrome. We also hypothesize that bipartite/pseudofractured clavicles or other skeletal defects may be under‐recognized features of the clinical presentation of the chromatin remodeling disorders.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research