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Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for size prognosis and investigate the impact of growth hormone therapy on adult height. Growth parameters and parental size were obtained for 95 KS1 individuals (41 females). Growth charts for height, weight, body mass index (BMI) and occipitofrontal circumference were generated in standard deviation values for the first time in KS1. Statural growth of KS1 individuals was compared to parental target size. According to the charts, height, weight, BMI, and occipitofrontal circumference were lower for KS1 individuals than the normative French population. For males and females, the mean growth of KS1 individuals was -2 and -1.8 SD of their parental target size, respectively. Growth hormone therapy did not increase size beyond the predicted size. This study, from the largest cohort available, proposes growth charts for widespread use in the management of KS1, especially for size prognosis and screening of other diseases responsible for growth impairment beyond a calculated specific target size. © 2019 Wiley Periodicals, Inc.


Valentin Ruault, Carole Corsini, Claire Duflos, Sandrine Akouete, Véra Georgescu, Mario Abaji, Yves Alembick, Eudeline Alix, Jeanne Amiel, Cyril Amouroux, Mouna Barat-Houari, Clarisse Baumann, Adeline Bonnard, Guilaine Boursier, Odile Boute, Lydie Burglen, Tiffany Busa, Marie-Pierre Cordier, Valérie Cormier-Daire, Marie-Ange Delrue, Bérénice Doray, Laurence Faivre, Mélanie Fradin, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Alice Goldenberg, Svetlana Gorokhova, Delphine Héron, Bertrand Isidor, Marie-Line Jacquemont, Aurélia Jacquette, Claire Jeandel, Didier Lacombe, Martine Le Merrer, Kim Hanh Le Quan Sang, Stanislas Lyonnet, Sylvie Manouvrier, Caroline Michot, Anne Moncla, Sébastien Moutton, Sylvie Odent, Anna Pelet, Nicole Philip, Lucile Pinson, Julie Reversat, Joëlle Roume, Elodie Sanchez, Damien Sanlaville, Pierre Sarda, Elise Schaefer, Marianne Till, Isabelle Touitou, Annick Toutain, Marjolaine Willems, Vincent Gatinois, David Geneviève. Growth charts in Kabuki syndrome 1. American journal of medical genetics. Part A. 2020 Mar;182(3):446-453

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PMID: 31876365

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