BTR 2.0(FLASHCARD)&FMGE, NEET PG || INICET
                                
                            
                            
                    
                                
                                
                                January 24, 2025 at 11:13 PM
                               
                            
                        
                            Marfan's syndrome is an inherited connective tissue disorder that is caused by a mutation in a gene that codes for an extracellular matrix protein-fibrillin-1 (FBN1). The FBN1 locus is on the long arm of chromosome 15. It is a clinical diagnosis based on skeletal, cardiovascular, and ocular manifestations.
Skeletal manifestations:
• Overgrowth of long bones (dolichostenomelia) with an arm span to height ratio of more than 1.05
• Pectus carinatum or pectus excavatum
• Long and slender fingers (arachnodactyly), contracture of fingers (camptodactyly)
• Malar hypoplasia
• Joint laxity
Cardiovascular manifestations:
• Thickened atrioventricular valves, valvular prolapse (mitral regurgitation)
• Aortic valve dysfunction due to aortic root aneurysm
• Aortic dissection and rupture due to cystic medial necrosis of the aorta
Ocular manifestations:
• ectopia lentis
• myopia
• flat cornea
Regards 
CODE:- *IND408* (CEREBELLUM)
                        
                    
                    
                    
                    
                    
                                    
                                        
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