title: Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
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 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.
authors.affiliation: Manchester Center for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, UK Manchester Academic Health Sciences Center, Manchester, UK.|Turku University Hospital, Turku, Finland.
authors.forename: Maria
authors.identifier: http://orcid.org/0000-0003-3731-863X
authors.initials: M
authors.lastname: Haanpää
authors.affiliation: Manchester Center for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, UK Manchester Academic Health Sciences Center, Manchester, UK.
authors.forename: Helena
authors.initials: H
authors.lastname: Schlecht
authors.affiliation: Department of Perinatal Histopathology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
authors.forename: Gauri
authors.initials: G
authors.lastname: Batra
authors.affiliation: Manchester Center for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, UK Manchester Academic Health Sciences Center, Manchester, UK.|Faculty of Medical and Human Sciences, Institute of Evolution, Systems and Genomics, University of Manchester, Manchester, UK.
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.affiliation: Manchester Center for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, UK Manchester Academic Health Sciences Center, Manchester, UK.|Faculty of Medical and Human Sciences, Institute of Evolution, Systems and Genomics, University of Manchester, Manchester, UK.
authors.forename: Sofia
authors.initials: S
authors.lastname: Douzgou
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D000025:Abortion, Eugenic; D002968:Clavicle / Q000002:abnormalities*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005145:Face / Q000002:abnormalities* / Q000473:pathology; D005333:Fetus; D015870:Gene Expression; D056726:Genetic Association Studies; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010641:Phenotype; D011296:Prenatal Diagnosis; D015837:Vestibular Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins
keywords: KMT2D; Kabuki syndrome; bipartite clavicle; interrupted clavicle