Stheneur Chantal, Tubach Florence, Jouneaux Marlène, Roy Carine, Benoist Gregoire, Chevallier Bertrand, Boileau Catherine, Jondeau Guillaume
1] AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France [2] AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne, France.
1] AP-HP, Hôpital Bichat, Département d'Epidémiologie et Recherche Clinique, CIC-EC INSERM CIE801, Paris, France [2] Université Paris 7, Paris, France.
Genet Med. 2014 Mar;16(3):246-50. doi: 10.1038/gim.2013.123. Epub 2013 Sep 5.
Because diagnosis of Marfan syndrome is difficult during infancy, we used a large cohort of children to describe the evolution of the Marfan syndrome phenotype with age.
Two hundred and fifty-nine children carrying an FBN1 gene mutation and fulfilling Ghent criteria were compared with 474 non-Marfan syndrome children.
Prevalence of skeletal features changed with aging: prevalence of pectus deformity increased from 43% at 0-6 years to 62% at 15-17 years, wrist signs increased from 28 to 67%, and scoliosis increased from 16 to 59%. Hypermobility decreased from 67 to 47% and pes planus decreased from 73 to 65%. Striae increased from 2 to 84%. Prevalence of ectopia lentis remained stable, varying from 66 to 72%, similar to aortic root dilatation (varying from 75 to 80%). Aortic root dilatation remained stable during follow-up in this population receiving β-blocker therapy. When comparing Marfan syndrome children with non-Marfan syndrome children, height appeared to be a simple and discriminant criterion when it was >3.3 SD above the mean. Ectopia lentis and aortic dilatation were both similarly discriminating.
Ectopia lentis and aortic dilatation are the best-discriminating features, but height remains a simple discriminating variable for general practitioners when >3.3 SD above the mean. Mean aortic dilatation remains stable in infancy when children receive a β-blocker.
由于马凡综合征在婴儿期难以诊断，我们利用一大群儿童来描述马凡综合征表型随年龄的演变。
将259名携带FBN1基因突变且符合根特标准的儿童与474名非马凡综合征儿童进行比较。
骨骼特征的患病率随年龄增长而变化：漏斗胸畸形的患病率从0至6岁时的43%增至15至17岁时的62%，腕征从28%增至67%，脊柱侧弯从16%增至59%。关节过度活动从67%降至47%，扁平足从73%降至65%。萎缩纹从2%增至84%。晶状体异位的患病率保持稳定，在66%至72%之间，与主动脉根部扩张情况相似（在75%至80%之间）。在接受β受体阻滞剂治疗的这群人中，主动脉根部扩张在随访期间保持稳定。当将马凡综合征儿童与非马凡综合征儿童进行比较时，身高高于平均水平3.3个标准差时似乎是一个简单且有鉴别力的标准。晶状体异位和主动脉扩张的鉴别力相似。
晶状体异位和主动脉扩张是最具鉴别力的特征，但对于全科医生来说，当身高高于平均水平3.3个标准差时，它仍然是一个简单的鉴别变量。当儿童接受β受体阻滞剂治疗时，婴儿期的平均主动脉扩张保持稳定。
