作者: Ellen A. Croonen , Jos M. T. Draaisma , Ineke van der Burgt , Nel Roeleveld , Cees Noordam
DOI: 10.1002/AJMG.A.38649
关键词:
摘要: Children with Noonan syndrome show rapid decline of growth in the first year life and feeding problems are present over 50%. The aim this study was to explore whether decelerates because or other syndrome-related factors. We performed a retrospective, longitudinal cohort clinically genetically diagnosed subjects (n = 143). Questionnaires about phenotypic-genotypic profile reported were sent eligible subjects. Data on first-year obtained from charts. Ninety-one participants excluded different criteria. A total 52 included. largest weight length standard deviation score (SDS) occurred 2.5 months after birth (-1.93 -1.15, respectively), causing 0.57 SDS remaining months. At 1 year, children average 290 g lighter 0.8 cm shorter than without problems. Weight gain also negatively influenced by having PTPN11 mutation 39) higher gestational age, whereas parents gained more weight. Growth reduced cardiac surgery but positively maternal height. is impaired right only partially associated In addition, several specific factors seem influence year.