title: Body proportions in children with Kabuki syndrome.
abstract: Facial characteristics, short stature, and skeletal anomalies have been described for the clinical diagnosis of Kabuki Syndrome (KS) in children. However, no studies have investigated body proportions in KS. Knowledge of body proportions in KS may contribute to better insight into the growth pattern and characterization of this genetic disorder. Therefore we compared body proportions of children with KS to normally proportioned controls to investigate if atypical body proportions are part of this genetic disorder. This study was designed and conducted within the setting of the Maastricht University Medical Centre (MUMC+), the official Dutch expert center for Kabuki syndrome. We conducted a cross-sectional study in 32 children (11 children with KS and 21 controls). Body proportions were determined by means of photogrammetric anthropometry, measurements based on digital photography. Body proportions, quantified as body ratios, differ significantly in children with KS from normally proportioned children. Children with KS have larger heads and longer arms proportional to their trunks and have been found to have longer upper arms proportional to their tibia length and feet. Based on deviations in body proportions it was shown possible to discern children with KS from normally proportioned controls.
authors.affiliation: Department of Paediatric Endocrinology Maastricht University Medical Centre (MUMC+), The Netherlands.
authors.forename: Bas
authors.initials: B
authors.lastname: Penders
authors.affiliation: Department of Paediatric Endocrinology Maastricht University Medical Centre (MUMC+), The Netherlands.
authors.forename: Nina
authors.initials: N
authors.lastname: Schott
authors.affiliation: Department of Paediatric Endocrinology Maastricht University Medical Centre (MUMC+), The Netherlands.
authors.forename: Willem-Jan M
authors.initials: WJ
authors.lastname: Gerver
authors.affiliation: Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University, The Netherlands.
authors.forename: Constance T R M
authors.initials: CT
authors.lastname: Stumpel
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D000886:Anthropometry; D001824:Body Constitution / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005145:Face / Q000002:abnormalities* / Q000503:physiopathology; D005260:Female; D015870:Gene Expression; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D015837:Vestibular Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins
keywords: Kabuki syndrome; body proportions; children; photogrammetric anthropometry