Tofts Louise, Das Sandeep, Collins Felicity, Burton Karen L O
Kids Rehab, The Children's Hospital at Westmead, Westmead, New South Wales.
Discipline of Child & Adolescent Health, The Children's Hospital at Westmead Clinical School, University of Sydney, New South Wales.
Am J Med Genet A. 2017 Aug;173(8):2189-2200. doi: 10.1002/ajmg.a.38312. Epub 2017 Jun 9.
Achondroplasia is an autosomal dominant disorder, the most common genetic cause of short stature in humans. Reference curves for head circumference, weight, height, and BMI are needed in clinical practice but none exist for the Australian population. This study aimed to produce head circumference, height, weight, and BMI reference percentile curves for Australian children and adolescents with achondroplasia. Measurements of head circumference, height and weight taken at clinical visits were retrospectively extracted from the electronic medical record. Age was corrected for prematurity. Patients were excluded from head circumference analysis if they had significant neurosurgical complications and from the weight and BMI analysis when they had a clinical diagnosis of overweight. Measurements were available on 138 individuals (69 males and 69 females) taken between 1970 and 2015, with over 50% collected since 2005. A total of 3,352 data points were available. The LMS method was used to produce growth charts with estimated centiles (10, 25, 50, 75, and 90th) separately for males and females. For females birth weight was 3 kg (2.5-3.5 kg), birth length 48 cm (44-50 cm) and head circumference 37.5 cm (36-39 cm), adult height was 125 cm (116-132 cm), weight 42 kg (34-54 kg), and head circumference 58 cm (55.5-60.5 cm) all 50th centile (10-90th). For males birth weight was 3.5 kg (3-4 kg), length 49 cm (46-52 cm) and head circumference 38.5 cm (36-41 cm), adult height was 134 cm (125-141 cm), weight 41 kg (24.5-57 kg) and head circumference 61 cm (58-64 cm). The curves are similar to previously published reference data from the USA and have expected population wide variation from curves from an Argentinian population. Despite limitations of our curves for adolescents (12 years and older) due to data paucity, these Australian growth charts for children and adolescents with achondroplasia will be a useful reference in clinical practice.
软骨发育不全是一种常染色体显性疾病，是人类身材矮小最常见的遗传病因。临床实践中需要头围、体重、身高和体重指数的参考曲线，但澳大利亚人群尚无此类曲线。本研究旨在为澳大利亚患有软骨发育不全的儿童和青少年绘制头围、身高、体重和体重指数参考百分位数曲线。从电子病历中回顾性提取临床就诊时测量的头围、身高和体重数据。对早产进行了年龄校正。有严重神经外科并发症的患者被排除在头围分析之外，临床诊断为超重的患者被排除在体重和体重指数分析之外。1970年至2015年间对138名个体（69名男性和69名女性）进行了测量，自2005年以来收集的数据超过50%。总共获得了3352个数据点。采用LMS方法分别为男性和女性绘制了估计百分位数（第10、25、50、75和90百分位数）的生长图表。对于女性，出生体重为3千克（2.5 - 3.5千克），出生身长48厘米（44 - 50厘米），头围37.5厘米（36 - 39厘米），成人身高125厘米（116 - 132厘米），体重42千克（34 - 54千克），头围58厘米（55.5 - 60.5厘米），均为第50百分位数（第10 - 90百分位数）。对于男性，出生体重为3.5千克（३ - 4千克），身长49厘米（46 - 52厘米），头围38.5厘米（36 - 41厘米），成人身高134厘米（125 - 141厘米），体重41千克（24.5 - 57千克），头围61厘米（58 - 64厘米）。这些曲线与美国先前公布的参考数据相似，且与阿根廷人群的曲线相比，在整个人口中存在预期的差异。尽管由于数据匮乏，我们为青少年（12岁及以上）绘制的曲线存在局限性，但这些针对澳大利亚患有软骨发育不全的儿童和青少年的生长图表在临床实践中将是一个有用的参考。
