Vergier J, Marquant E, Busa T, Reynaud R
Service de pédiatrie multidisciplinaire, hôpital Timone Enfants, Assistance publique des hôpitaux de Marseille, 264, rue Saint-Pierre, 13385 Marseille, France.
Service de pédiatrie multidisciplinaire, hôpital Timone Enfants, Assistance publique des hôpitaux de Marseille, 264, rue Saint-Pierre, 13385 Marseille, France.
Arch Pediatr. 2018 Feb;25(2):163-169. doi: 10.1016/j.arcped.2017.12.010. Epub 2018 Feb 1.
Tall stature is not a common motive for medical consultation, even though by definition 2.5 % of children in the general population are concerned. It is usually defined as height greater than+2 standard deviations (SD) using the appropriate growth chart for age and gender, or a difference greater than +2 SD between actual height and target height. With a patient presenting tall stature, the physician has to determine whether it is a benign feature or a disease. Indeed, making the diagnosis is essential for hormonal disease or genetic overgrowth syndromes. The past medical history including parents' height, prenatal and birth data, physical examination along with anthropometry (height, weight, head circumference, body mass index), and growth chart evaluation with the detailed growth pattern are generally sufficient to make the diagnosis such as familial tall stature, obesity, or early puberty. Bone age estimation may be helpful for some specific etiologies and is also necessary to help predict final adult height. After exclusion of common causes, further investigation is required. Sudden growth acceleration often reveals endocrine pathology such as early puberty, hyperthyroidism, or acrogigantism. Tall stature accompanied by dysmorphic features, congenital malformations, developmental delay, or a family medical history may be related to genetic disorders such as Marfan, Sotos, or Wiedemann-Beckwith syndromes. We relate here the most frequent etiologies of overgrowth syndromes.
身材高大并非就医的常见原因,尽管从定义上讲,普通人群中有2.5%的儿童属于这种情况。身材高大通常被定义为使用适合年龄和性别的生长图表时,身高高于+2标准差(SD),或者实际身高与目标身高之间的差异大于+2SD。对于身材高大的患者,医生必须确定这是一种良性特征还是一种疾病。事实上,对于激素疾病或遗传性过度生长综合征来说,做出诊断至关重要。既往病史,包括父母身高、产前和出生数据、体格检查以及人体测量(身高、体重、头围、体重指数),以及结合详细生长模式的生长图表评估,通常足以做出诸如家族性身材高大、肥胖或性早熟等诊断。骨龄评估可能有助于某些特定病因的诊断,对于预测最终成人身高也很有必要。排除常见原因后,需要进一步检查。生长突然加速往往提示内分泌疾病,如性早熟、甲状腺功能亢进或肢端肥大症。伴有畸形特征、先天性畸形、发育迟缓或家族病史的身材高大可能与遗传性疾病有关,如马凡综合征、索托斯综合征或威德曼-贝克威思综合征。我们在此阐述过度生长综合征最常见的病因。