A1 Refereed original research article in a scientific journal
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome
Authors: Haanpaa M, Schlecht H, Batra G, Clayton-Smith J, Douzgou S
Publisher: WILEY
Publication year: 2017
Journal:: American Journal of Medical Genetics Part A
Journal name in source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Journal acronym: AM J MED GENET A
Volume: 173
Issue: 4
First page : 1115
Last page: 1118
Number of pages: 4
ISSN: 1552-4825
DOI: https://doi.org/10.1002/ajmg.a.38131
Abstract
Kabuki syndrome is a rare developmental disorder characterized by typical facial features, postnatal growth deficiency, mild to moderate intellectual disability, and minor skeletal anomalies. It is caused by mutations of the KMT2D and KDM6A genes while recently RAP1A and RAP1B mutations have been shown to rarely contribute to the pathogenesis. We report two patients' presentation of Kabuki syndromecaused 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.
Kabuki syndrome is a rare developmental disorder characterized by typical facial features, postnatal growth deficiency, mild to moderate intellectual disability, and minor skeletal anomalies. It is caused by mutations of the KMT2D and KDM6A genes while recently RAP1A and RAP1B mutations have been shown to rarely contribute to the pathogenesis. We report two patients' presentation of Kabuki syndromecaused 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.
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