The Marfanoid habitus is well known to pediatric clinicians; it is characterized by tall, asthenic habitus. In Marfan Syndrome (MFS), there is multi-organ involvement including eye, heart and muscular/skeletal abnormalities. Erkula et al, largely from Johns Hopkins data, have retrospectively compiled growth pattern data on 180 clinically diagnosed MFS patients. They have generated growth charts and growth velocity charts for infant, children and adolescent males and females. Not unexpectedly, males and females with MFS are larger at birth, grow at a greater velocity, and end up taller than average. Interestingly, skeletal maturation is also advanced and puberty is earlier when compared to the general population.
These data are extremely important and very helpful for those caring for children with MFS to determine whether a child is outside the expected range for MFS. This and further accumulated data will be very important in respect to the management of the spinal deformities common in MFS, as well as considering either surgical or hormonal therapies to decrease ultimate height.
The study was done using retrospective measurements, primarily from familial cases where the diagnosis had been made on a clinical basis. The authors express some concern about precision of height and weight measurements since they were collected by non-auxologists and because longitudinal data early in life were very limited. Nevertheless, the data are extremely useful in defining the overall natural history of growth in MFS. The authors point out that the excessive linear growth seen in MFS begins prenatally. The growth velocity is consistently higher than that observed in the general population, although body mass does not exceed that in the general population. This combination leads to the slender habitus in MFS.
An important consideration in MFS is the development of idiopathic scoliosis. On average, it develops earlier in children with MFS than in children in the general population. Since it is a common occurrence in MFS, it needs to be screened early and treated aggressively.
The study also documented that skeletal maturation occurs earlier in MFS than in the average population. This is an important consideration when thinking about various therapeutic modalities such as the timing for surgical epiphysiodesis or hormonal therapy to produce cessation of growth and for considering utilizing braces to treat scoliosis.
Erkula G, et al. Growth and maturation in Marfan syndrome. Am J Med Genet 2002:109; 100-115.
Editor’s Comment: This manuscript should be prime reading for those taking care of MFS patients. Space limits the presentation of the multiple figures presented in the manuscript. These growth charts are available in the original manuscript. These types of growth data are extremely important for relatively rare genetic syndromes and can only be accumulated in centers with enormous experience. Not only is the natural history important to elucidate, but understanding how and when to apply various therapies is extremely important.
Interestingly, the authors point out that some individuals with MFS are taller than others and, surprisingly, that some MFS patients are obese. Secondary genes or other mutations that affect height and weight are being sought. Such studies may be revealing in better understanding the variations of normal stature as well. It is the careful study of rare genetic disorders that helps to provide better therapy of diseased states and better understanding of normal development. We should be very grateful to this group, which has collected these data over many years. I cannot help but note and be dismayed that it is very difficult to find funding for this type of research and, yet, it is so extremely important. Therefore, we should be even more grateful to the authors and hope that they will be reporting similar data obtained in the studies of other rare genetic growth disorders.
Judith G. Hall, OC, MD