Mäkitie O, Perheentupa J, Kaitila I
Department of Medical Genetics, University of Helsinki, Finland.
Pediatr Res. 1992 Feb;31(2):176-80. doi: 10.1203/00006450-199202000-00018.
Cartilage-hair hypoplasia is an osteochondrodysplasia with short-limbed short stature. The cartilage-hair hypoplasia gene is exceptionally prevalent in Finland; more than 100 patients have been identified. We have analyzed the growth of 100 Finnish patients and present cartilage-hair hypoplasia-specific growth charts of height and weight for height. The disproportions were analyzed by sitting height, subischial leg height, sitting height:height ratio, and span-height difference. The stature was short at birth with a mean relative length of -3.0 SD. The median adult height was 131.1 cm (-7.9 SD, range 110.7 to 149.0 cm) for 15 males and 122.5 cm (-7.9 SD, range 103.7 to 137.4 cm) for 20 females. The progression of the growth failure was partly explained by weakness or absence of pubertal growth spurt. Weight for height was above normal median in childhood and increased further at puberty. Most of the adults were overweight. The adults' mean relative head circumference was -0.9 SD. Growth was disturbed both in the limbs and in the spine, more severely in the limbs. Adult height showed no correlation with the midparent height. The charts are useful for assessment of growth, prediction of adult height, detection of superimposed disorders, and evaluation of growth-accelerating therapy.
软骨毛发发育不全是一种伴有短肢矮小身材的骨软骨发育不良。软骨毛发发育不全基因在芬兰极为常见；已确诊100多名患者。我们分析了100名芬兰患者的生长情况，并给出了软骨毛发发育不全患者特有的身高和身高别体重生长图表。通过坐高、坐骨下腿长、坐高与身高比值以及指距与身高差值分析比例失调情况。出生时身材矮小，平均相对长度为-3.0标准差。15名男性的成人身高中位数为131.1厘米（-7.9标准差，范围110.7至149.0厘米），20名女性为122.5厘米（-7.9标准差，范围103.7至137.4厘米）。生长迟缓的进展部分可归因于青春期生长突增的减弱或缺乏。身高别体重在儿童期高于正常中位数，并在青春期进一步增加。大多数成年人超重。成年人的平均相对头围为-0.9标准差。四肢和脊柱的生长均受到干扰，四肢更为严重。成人身高与父母平均身高无相关性。这些图表有助于评估生长情况、预测成人身高、检测并发疾病以及评估生长加速治疗效果。
