Growth and maturation in Marfan syndrome

Gurkan Erkula, Kevin B. Jones, Paul D. Sponseller, Harry C. Dietz, Reed E. Pyeritz

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


Understanding the growth pattern in Marfan syndrome is important for prediction of expected growth, prevention of excessive growth by hormone therapy, timing of surgical epiphysiodesis for cessation of growth, and instituting brace treatment for scoliosis. In this study, we analyze growth patterns and generate growth charts for persons with Marfan syndrome. From the charts of 180 clinically diagnosed Marfan patients, longitudinal height and weight measurements were obtained. From this data, growth charts and growth velocity charts were generated for males and females. Skeletal maturation was studied by determining the Risser signs from the x-rays of 71 males and 56 females. From 22 female patients, age of menarche was available and retrieved either by reviewing the charts or contacting the patients. Mean length at birth was 53 ± 4.4 cm for males and 52.5 ± 3.5 cm for females. Mean final height was 191.3 ± 9 cm for males and 175.4 ± 8.2 cm for females. Mean birth weight was 3.51 ± 0.74 kg for males and 3.48 ± 0.68 kg for females. The puberty-associated peak in growth velocity was 2.4 years earlier than the gender-matched general population for males with Marfan syndrome and 2.2 years earlier for females. Age of menarche was 11.7 ± 2 years of age, which is also early compared to the general population. This study suggests that the growth spurt and pubertal skeletal maturation occur early in Marfan syndrome. The growth curves generated should help more accurately predict adult stature, as well as monitor progression toward it.

Original languageEnglish (US)
Pages (from-to)100-115
Number of pages16
JournalAmerican journal of medical genetics
Issue number2
StatePublished - Apr 22 2002


  • Growth
  • Growth chart
  • Marfan syndrome
  • Maturation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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