Marfan Syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the gene encoding for fibrillin. Fibillin is a glycoprotein common in many tissues which is a structural component of elastin-containing microfibrils.
Marfan Syndrome is characterized by individuals with long, thin limbs, myopia, dural ectasia, and ectopia lentis. Associated medical conditions include cardiac abnormalities (mitral valve prolapse) and superior lens dislocations. Orthopaedic conditions include but are not limited to arachnodactyly, scoliosis, and ligamentous laxity.
Sponseller et al performed a study with the goals of determining the prevalence of current diagnostic findings in Marfan Syndrome. They found physical features with the highest diagnostic yield were craniofacial characteristics, thumb and wrist signs, pectus excavatum, and severe hindfoot valgus. They recommend patients with three to four physically evident features, or two highly specific features (e.g., thumb and wrist signs, craniofacial features, dural ectasia, or protrusio), should be carefully reexamined and possibly referred for an echocardiogram or a genetics consultation.
Shirley and Sponseller reviewed the diagnosis and treatment of Marfan syndrome. They report "compared to with patients with idiopathic scoliosis, patients with Marfan syndrome tend to have scoliosis that progresses at a faster rate and is more resistant to bracing; undergo scoliosis surgery complicated by greater blood loss, pseudarthrosis, and additional curvature; and have more frequent occurrences of dural ectasia, which may cause headaches, leg pain, or perineal pain."
Answer 1: A defect in Elastin is associated with supravalvular aortic stenosis (SVAS)and autosomal dominant cutis laxa.
Answer 3: A defect in FGFR3 is associated with Achondroplasia.
Answer 4: A defect in Type 1 collagen is associated with Osteogenesis Imperfecta and Ehlers Danlos syndrome
Answer 5: A defect in Collagen Type 2 is associated with SED, Achondrogenesis, Stickler Syndrome.
Sponseller PD, Erkula G, Skolasky RL, Venuti KD, Dietz HC 3rd. Improving clinical recognition of Marfan syndrome. J Bone Joint Surg Am. 2010 Aug 4;92(9):1868-75. PubMed PMID: 20686061.
PMID: 20686061 (Link to Abstract)
Shirley ED, Sponseller PD. Marfan syndrome. J Am Acad Orthop Surg. 2009 Sep;17(9):572-81. Review. PubMed PMID: 19726741.
PMID:19726741 (Link to Abstract)