Connective Tissue Disorders
A 14-year-old tall, thin boy is referred for evaluation of progressive scoliosis. He has a family history of sudden cardiac death. Examination reveals arm span exceeding height, pectus excavatum, arachnodactyly (positive wrist and thumb signs), and pes planus. He has been told he has "loose joints." Regarding Marfan syndrome and its musculoskeletal manifestations:
Mark each as TRUE or FALSE
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 ...
Major skeletal features include scoliosis (60%), pectus deformity (excavatum or carinatum), reduced ...
Marfan syndrome is X-linked recessive affecting only males; the causative gene encodes type I collag...
Life-threatening cardiovascular manifestations include aortic root dilatation leading to aortic diss...
Ocular manifestations include ectopia lentis (lens dislocation, typically superotemporal) which is h...
Answer the questions to see explanations
Click T (True) or F (False) for each option