Spontaneous postnatal growth is reduced in children with CHARGE syndrome

被引:9
|
作者
Doerr, Helmuth G. [1 ]
Madeja, Julia [1 ]
Junghans, Claudia [2 ]
机构
[1] Univ Erlangen Nurnberg, Hosp Children & Adolescents, Div Pediat Endocrinol, Erlangen, Germany
[2] Charge Syndrom eV, Emskirchen, Germany
关键词
birth size; Genetic disease; Growth hormone deficiency; Postnatal growth; Short stature; CHD7; MUTATIONS; ASSOCIATION; GENE; PHENOTYPE; ANOMALIES; SPECTRUM; PROPOSAL; UPDATE;
D O I
10.1111/apa.12980
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
AimThere is a scarcity of data on postnatal growth in children with CHARGE syndrome, a genetic disorder. This study analysed spontaneous growth and weight in German children with CHARGE from birth to the age of 6years. MethodsThis was a retrospective analysis of 19 children, nine females and 10 males, using data from child health records. Standard deviation scores (SDS) were calculated based on Swiss references. ResultsThe median birthweight was 2950g (-0.78 SDS), and the birth length was 49cm (-0.5 SDS). There was a significant loss of median body length, at around 4weeks of age from -0.5 to -2.3 SDS (p<0.05). At 1year, the median length was -2.6 SDS and it remained low until 5years of age when the lowest value was found to be -2.8 SDS. There was a significant increase in median body mass index (BMI) from -1.15 SDS at 1year to -0.15 SDS at 5years (p<0.01). ConclusionChildren with CHARGE syndrome displayed almost normal length and weight data at birth, with just one of the 19 infants having below average length for gestational age. However, postnatal growth was retarded during infancy and childhood, and the increase in BMI-SDS did not correlate with growth.
引用
收藏
页码:E314 / E318
页数:5
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