title: Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Two hundred and fifty-nine children carrying an FBN1 gene mutation and fulfilling Ghent criteria were compared with 474 non-Marfan syndrome children.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 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.
authors.forename: Chantal
authors.initials: C
authors.lastname: Stheneur
authors.affiliation: 1] AP-HP, Hôpital Bichat, Département d'Epidémiologie et Recherche Clinique, CIC-EC INSERM CIE801, Paris, France [2] Université Paris 7, Paris, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Tubach
authors.affiliation: AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne, France.
authors.forename: Marlène
authors.initials: M
authors.lastname: Jouneaux
authors.affiliation: AP-HP, Hôpital Bichat, Département d'Epidémiologie et Recherche Clinique, CIC-EC INSERM CIE801, Paris, France.
authors.forename: Carine
authors.initials: C
authors.lastname: Roy
authors.affiliation: 1] AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne, France [2] Université Versailles-SQY, Versailles, France.
authors.forename: Gregoire
authors.initials: G
authors.lastname: Benoist
authors.affiliation: 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 [3] Université Versailles-SQY, Versailles, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Chevallier
authors.affiliation: 1] AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France [2] Université Versailles-SQY, Versailles, France [3] AP-HP, Hôpital Ambroise Paré, Laboratoire Central de Biochimie d'Hormonologie et de Génétique moléculaire, Boulogne, France [4] INSERM, U698, Paris, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Boileau
authors.affiliation: 1] AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France [2] Université Paris 7, Paris, France [3] AP-HP, Hôpital Bichat, Service de Cardiologie, Paris, France [4] INSERM, U698, Paris, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Jondeau
mesh_terms: D000293:Adolescent; D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D001011:Aorta / Q000473:pathology; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003937:Diagnosis, Differential; D004108:Dilatation, Pathologic / Q000175:diagnosis; D004479:Ectopia Lentis / Q000175:diagnosis; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D054392:Adipokines
chemical_list: D000319:Adrenergic beta-Antagonists; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines