Growth patterns of patients with Noonan syndrome: correlation with age and genotype
作者： Catie Cessans , Virginie Ehlinger , Catherine Arnaud , Armelle Yart , Yline Capri
DOI: 10.1530/EJE-15-0922
关键词: Genotype 、 Gastroenterology 、 Endocrinology 、 Birth weight 、 Medicine 、 Body mass index 、 Population 、 Noonan syndrome 、 KRAS 、 Internal medicine 、 Population study 、 Young adult
摘要: Background: Growth patterns of patients with Noonan syndrome (NS) were established before the involved genes identified. Objective: The goal this study was to compare growth parameters according genotype in NS. Subjects and methods: population included 420 (176 females 244 males) harboring mutations PTPN11, SOS1, RAF1, or KRAS genes. NS-associated PTPN11 (NS-PTPN11) NS multiple lentigines-associated (NSML-PTPN11) distinguished. Birth measures height body mass index (BMI) at 2, 5, 10 years, adulthood compared general between genotypes. Results: Patients shorter birth (mean length standard deviation score (SDS): -1.0 +/- 1.4; P < 0.001) throughout childhood than healthy population, SDS being -2.1 1.3 2 1.2 5 years (P 0.001). At birth, NS-PTPN11 significantly thinner NSML-PTPN11, KRAS. retardation less severe frequent NSML-PTPN11 SOS1 0.001 = 0.002 respectively). had lower BMI No difference genotypes demonstrated. Conclusion: Determining should better inform clinicians about natural course so that they can optimize follow-up management these patients.
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