Abstract
Background:
Noonan syndrome (NS) is a clinically and genetically heterogeneous syndrome characterized by distinctive facial features, short stature, congenital heart diseases, and other comorbidities. NS-specific growth charts are essential for NS care, but currently no such charts are available for Asian populations.
Methods:
We conducted a nationwide survey by collaborating with three academic societies in Japan. We obtained the data of 356 clinically diagnosed NS subjects from 20 hospitals. The Lambda-Mu-Sigma method was used for establishing growth charts.
Results:
A total of 308 subjects (males: 159 and females: 149) were analyzed after excluding 48 subjects because of missing auxological data (26 subjects), presence of complications affecting growth (5 subjects), and extreme longitudinal growth aberrations which lay more than three standard deviation scores from the mean in this population (17 subjects). Genetic analyses were performed in 150 patients (48.7%); 103 (68.7%) were reported to have some abnormalities in the known causative genes. Cardiovascular diseases were found in 256 patients (83.1%). The NS-specific height, weight, and BMI charts were constructed with 3,249 mixed longitudinal and cross-sectional measurements.
Conclusion:
Growth standards for Japanese individuals with NS were established. These charts are expected to be used in various clinical settings.
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Change history
22 July 2022
A Correction to this paper has been published: https://doi.org/10.1038/s41390-022-02123-7
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Acknowledgements
We thank the following members of this nationwide survey study: Hironori Tanahashi, Department of Pediatrics, Asahikawa Medical College School of Medicine; Masato Yokozawa, Department of Pediatrics, Hokkaido Medical Center for Child Health and Rehabilitation; Yoko Aoki, Department of Medical Genetics, Tohoku University School of Medicine; Ikuma Fujiwara, Department of Pediatrics, Tohoku University School of Medicine; Hitoshi Horigome, Department of Child Health, Graduate School of Comprehensive Human Science, University of Tsukuba; Hirofumi Ohashi, Division of Medical Genetics, Saitama Children’s Medical Center; Hiroshi Mochizuki, Division of Endocrinology and Metabolism, Saitama Children’s Medical Center; Chie Takahashi, Yasuhiro Naiki, Reiko Horikawa, Division of Endocrinology and Metabolism, National Center for Child Health and Development; Reina Ishizaki, Hiroyuki Yamagishi, Department of Pediatrics, Keio University School of Medicine; Kenjiro Kosaki, Center for Medical Genetics, Keio University School of Medicine; Hiroshi Yoshihashi, Division of Medical Genetics, Tokyo Metropolitan Children’s Medical Center; Yukihiro Hasegawa, Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center; In-Sam Park, Department of Pediatrics, Sakakihara Heart Institute; Sachiko Kitanaka, Department of Pediatrics, Graduate School of Medicine, The University of Tokyo; Kenji Kurosawa, Division of Medical Genetics, Kanagawa Children’s Medical Center, Masanori Adachi, Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center; Ayumi Uematsu, Department of Endocrinology and Metabolism, Shizuoka Children’s Hospital; Yasuo Ono, Department of Cardiology, Shizuoka Children’s Hospital; Haruo Mizuno, Shinji Saito, Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences; Masako Izawa, Takashi Hamajima, Division of Endocrinology and Metabolism, Aichi Children’s Health and Medical Center; Yasuko Shoji, Shinobu Ida, Department of Pediatric Gastroenterology, Nutrition, and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health; Nobuhiko Okamoto, Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health; Yoko Miyoshi, Noriyuki Namba, Keiichi Ozono, Department of Pediatrics, Osaka University Graduate School of Medicine; Yoshikazu Nishi, Department of Pediatrics, Hiroshima Red Cross Hospital. We also thank Julian Tang, Department of Education for Clinical Research, National Center for Child Health and Development, for reviewing and editing this manuscript.
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The original online version of this article was revised: On page 547, the equation “Z = [(y/M)L−1]/(L × S)” should have been “Z = [(y/M)L − 1]/(L × S)”.
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Isojima, T., Sakazume, S., Hasegawa, T. et al. Growth references for Japanese individuals with Noonan syndrome. Pediatr Res 79, 543–548 (2016). https://doi.org/10.1038/pr.2015.254
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