, proptosis, low-set ears, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hyperextensibility or contractures, hydrocephalus, dilatation of lateral ventricles, Chiari 1 malformation may be seen in this syndrome.
Clinical presentation is characterized by higher height, disproportion between upper and lower limbs (dolichostenomelia
), anterior thoracic deformity (pectus excavatum or carinatum), aortic arch dilatation, aortic insufficiency, mitral valve prolapse with associated regurgitation, and many other anomalies [1-4].
(long limbs, leading to an increase in the arm span-to-height ratio and a decrease in the upper-to-lower segment ratio) is less common in this syndrome.
Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis (involving the coronal, sagittal, or lambdoid sutures), distinctive craniofacial features, skeletal changes (dolichostenomelia
, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility, or contractures), neurologic abnormalities, mild-to-moderate intellectual disability, and brain anomalies.
Examination of the musculoskeletal system discloses dolichostenomelia
, and the arm span substantially exceeds height.
Marfan had never seen such features and was so impressed by the girl's long body and arms that he documented her clinical signs in a medical journal, calling the condition "dolichostenomelia," which is Greek for "long, thin extremities." (See Fig.
In 1902 the condition was renamed "arachnodactyly." This term, along with "dolichostenomelia," is still used today by physicians when diagnosing Marfan syndrome.
or long limbs and a tall stature are skeletal features of Marfan's syndrome.