Growth and maturation in Marfan syndrome

Abstract

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. © 2002 Wiley‐Liss, Inc.

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

“…Height >3.3 SD above the mean carried, in our study, a positive predictive value of 72% and a negative predictive value of 79% during childhood. It may be explained partly by statural advance, which has already been reported by others 15,19,20 but has never been included in any classification, whereas our study suggests that it has a great diagnostic value. We did not take into account the parents' height in our study, but parental heights should be taken into account before labeling a child as "tall. "…”

MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature

“…in height and grow remaining in the same percentile (Fig. 1A) (7,8,9). The second pattern is seen in children who cross upwards percentiles during childhood and/or puberty (Fig.…”

“…Disease-specific growth charts were developed in the United States and South Korea and both show mean heights above the 95th percentile for general population by the age of 2-3 years (Fig. 1A) (8,9). It is an autosomal dominant disease caused by a mutation in FBN1 gene, which encodes fibrilin-1.…”

Health Supervision for Children With Marfan Syndrome

“…Typically, most individuals with Marfan syndrome are tall for age (Figs 1 and 2), but it is important to note that not all affected individuals are tall by population standards; they are typically taller than predicted for their family (excluding others with Marfan syndrome). 9 Mean final height was 191.3 ± 9 cm (75 in) for The growth of the tubular bones is accelerated in Marfan syndrome, resulting in disproportionate features. The extremities are often disproportionately long in comparison with the trunk (dolichostenomelia), altering the upper-to-lower segment and the armspan-to-height ratios.…”

“…9 Hormonal therapy to limit adult height is rarely used in males. Complications can include accelerated growth, early puberty, and the undesirable consequences of associated increased blood pressure, which may increase the progression of the aortic dilation.…”