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Pediatrics Education and Research

Volume  1, Issue 1, January - March 2013, Pages 33-41
 

Case Report

Marfan’s Syndrome

Sunil Mhaske, Ramesh B Kothari, Sandeep Deokate, Ram Sethi, Pavan Suryawanshi, Nishad Patil, Rahul Maski, Nivrutti Mundhe, Subhash Yadav Bhosale

1Professor & Head Dept of Paediatrics, 2Assistant Professor; 3Residents, 4Residents, 5Residents, 6Residents, 7Residents, 8Residents, 9Intern, Padmashree Dr. Vithalrao Vikhe Patil Medical College & Hospital, Near Govt. Milk Dairy, Vilad Ghat, Ahmednag

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Abstract

Marfan’s syndrome is a genetic disorder of the connective tissue. People with Marfan’s tend to be unusually tall, with long limbs and long, thin fingers. The syndrome is inherited as a autosomal dominant trait, carried by the gene FBN1, which encodes the connective protein fibrillin-1. 

Key words: Marfan’s syndrome; Connective tissue disorder; FBN1; Fibrillin-1.


Corresponding Author : Sunil Mhaske