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Evolving phenotype of Marfan's syndrome
K J Lipscomb1, J Clayton-Smith, R Harris
1Department of Medical Genetics, St Mary's Hospital, Manchester.
Archives of Disease in Childhood
|January 1, 1997
Summary
Marfan syndrome
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue.
- Early diagnosis and management are crucial for preventing complications.
Purpose of the Study:
- To track the physical development of Marfan syndrome in children.
- To assess the utility of genetic testing for early diagnosis.
Main Methods:
- A cohort of 40 children with Marfan syndrome was studied.
- Clinical evaluations were repeated over time.
- DNA marker studies were employed for familial cases.
Main Results:
- Musculoskeletal features were prominent and changed during childhood.
- Genetic tracking facilitated early diagnosis in familial Marfan syndrome.
Conclusions:
- Understanding Marfan syndrome's evolution aids childhood diagnosis, particularly for sporadic cases.
- Genetic testing is valuable for early detection and management of familial Marfan syndrome.