Presenting signs and clinical diagnosis in individuals referred to rule out Marfan syndrome

Ophthalmic Genetics

Volumn 24, Issue 1, 2003, Pages 35-39

  Hamod, Anthony ^a   Moodie, Douglas ^a   Clark, Brian ^a   Traboulsi, Elias I ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Diagnosis; Ectopia lentis; Epidemiology; Marfan syndrome

Indexed keywords

ADOLESCENT; ARTICLE; BONE DISEASE; CARDIOVASCULAR SYMPTOM; CHILD; DIFFERENTIAL DIAGNOSIS; ECHOCARDIOGRAPHY; ECTOPIA LENTIS; FAMILY HISTORY; FEMALE; HUMAN; LENS SUBLUXATION; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SLIT LAMP; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; CARDIOVASCULAR DISEASES; CHILD; CHILD, PRESCHOOL; ECHOCARDIOGRAPHY; FEMALE; HUMANS; LENS SUBLUXATION; MALE; MARFAN SYNDROME; MIDDLE AGED; PROGNOSIS; RETROSPECTIVE STUDIES;

GENETTA;

EID: 0037350782     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.24.1.35.13892     Document Type: Article

References (5)

1. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417-426.
2. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 154700; last edited 2001, 18 July. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
3. Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet. 1995;4(Spec No):1799-1809.
4. th ed. Edinburgh: Churchill Livingstone, 2002;3977-4020.
5. th ed. New York: McGraw-Hill, 2001;5287-5312.