[Atypical forms of Marfan's syndrome]. 1971

M Válková

UI MeSH Term Description Entries
D008297 Male Males
D008382 Marfan Syndrome An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. Marfan Like Connective Tissue Disorder,Marfan Syndrome Type 1,Marfan Syndrome Type 2,Marfan Syndrome, Type II,Marfan Syndrome, Type I,Marfan's Syndrome,Marfans Syndrome
D009216 Myopia A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. Nearsightedness,Myopias,Nearsightednesses
D004204 Joint Dislocations Displacement of bones from their normal positions at a joint. Inferior Dislocation,Joint Subluxations,Luxatio Erecta,Dislocation, Joint,Dislocations, Joint,Inferior Dislocations,Joint Dislocation,Joint Subluxation,Subluxation, Joint,Subluxations, Joint
D005128 Eye Diseases Diseases affecting the eye. Eye Disorders,Eye Disease,Eye Disorder
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D001247 Asthenia Clinical sign or symptom manifested as debility, or lack or loss of strength and energy.

Related Publications

M Válková
December 1965, Journal de genetique humaine,
M Válková
January 1983, Archivio "Putti" di chirurgia degli organi di movimento,
M Válková
February 2014, International ophthalmology,
M Válková
January 1999, Revista de neurologia,
M Válková
January 1986, American journal of medical genetics. Supplement,
M Válková
January 1968, Revista espanola de oto-neuro-oftalmologia y neurocirugia,
M Válková
October 1958, Polski tygodnik lekarski,
M Válková
July 1996, Bailliere's clinical endocrinology and metabolism,
M Válková
January 1968, Kardiologiia,
M Válková
March 2013, Acta neurologica Belgica,
Copied contents to your clipboard!