Lateral meningocele syndrome


Bicuspid aortic valve

The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).


合計: 1

                      


(表示件数)
PMID (PMCID)
23696373
MIXED_SAMPLE Infant, Newborn
Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis.
Alves D, Sampaio M, Figueiredo R, Leao M.
Am J Med Genet A. 2013;161A(7):1768-72.
We describe a simplex case of lateral meningocele syndrome with bicuspid aortic valve, supporting the hypothesis of a connective tissue basis for this disorder and further expanding the phenotype.