Coutant Régis, Donzeau Aurélie, Decrequy Anne, Louvigné Mathilde, Bouhours-Nouet Natacha
Paediatric Endocrinology Service, CHU d'Angers, 4, rue Larrey, 49000 Angers, France.
Paediatric Endocrinology Service, CHU d'Angers, 4, rue Larrey, 49000 Angers, France.
Ann Endocrinol (Paris). 2017 Jun;78(2):98-103. doi: 10.1016/j.ando.2017.04.006. Epub 2017 May 5.
The diagnostic approach to tall stature in children is based on collecting birth data (macrosomia), sizes and family puberty, a family history of constitutional or pathological tall stature, search for a delay of development, dysmorphia, disproportion, analysis of the growth velocity (normal or accelerated), general examination and assessment of puberty, and bone age. When there is a history of psychomotor retardation, a family history of pathological tall stature, or a disproportion in the clinical examination, the genetic causes of tall stature will be mentioned. The most frequent causes are Marfan syndrome and similar, Sotos syndrome, Beckwith-Wiedemann syndrome, Klinefelter syndrome, and MEN2B. There are many genetic syndromes with tall stature, justifying consultation with the geneticist. When the speed of growth is accelerated, first of all it evokes puberty and early pseudopuberty, obesity and acromegaly. Finally, when the growth velocity is regular, and the parents are of tall stature, it evokes constitutional tall stature: this is the most frequent diagnosis, to retain after having rejected pathological tall statures.
儿童身材高大的诊断方法基于收集出生数据（巨大儿）、身高和家族青春期情况、家族性体质性或病理性身材高大病史、寻找发育延迟、畸形、比例失调情况、分析生长速度（正常或加速）、全身检查和青春期评估以及骨龄。当存在精神运动发育迟缓病史、病理性身材高大家族史或临床检查发现比例失调时，会提及身材高大的遗传原因。最常见的病因是马凡综合征及类似疾病、索托斯综合征、贝克威思-维德曼综合征、克兰费尔特综合征和多发性内分泌腺瘤2B型。有许多导致身材高大的遗传综合征，因此有必要咨询遗传学家。当生长速度加快时，首先会引发青春期和早熟性假性青春期、肥胖症和肢端肥大症。最后，当生长速度正常且父母身材高大时，则会考虑体质性身材高大：这是最常见的诊断，在排除病理性身材高大后即可确定。
