Patient (condition)
Aliases:
Topic aliases are alternate phrasings for a particular topic.
Williams-Beuren Syndrome
Williams Contiguous Gene Syndrome
Elfin Facies Syndrome
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC-STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
www.nlm.nih.gov/cgi/mesh/...
www.nlm.nih.gov/cgi/mesh/...
Improve to correct grammar or spelling, but do not significantly alter the substance of the original author's text.
Cancel
Endorsed by
,
more...
Private
only
only
Nov 06, 2012
3D representation of facial charactistics in patients with Williams Syndrome
Image from dx.doi.org/10.1002/ajmg.a...
Image from dx.doi.org/10.1002/ajmg.a...
Improve to correct grammar or spelling, but do not significantly alter the substance of the original author's text.
Cancel
Endorsed by
,
more...
Private
only
only
Nov 06, 2012
Representation of the characteristic "elfin" facial features seen in this condition.
Image from mbbsbtech.com/2012/07/14/...
Image from mbbsbtech.com/2012/07/14/...
Improve to correct grammar or spelling, but do not significantly alter the substance of the original author's text.
Cancel
Endorsed by
,
more...
Private
only
only
Nov 06, 2012