c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient.
lymphedemapeople
ankyloglossia, and Robin sequence in a Thai patient.
Am J Med Genet A. 2010 Feb 22
Tanpaiboon P, Kantaputra P, Wejathikul K, Piyamongkol W.
Faculty of Medicine, Department of Pediatrics, Chiang Mai University,
Chiang Mai, Thailand.
KEYWORDS
ankyloglossia • distichiasis • FOXC2 • glossoptosis • lymphedema •
robin sequence
Lymphedema-distichiasis syndrome is a rare primary lymphedema
inherited as an autosomal dominant disorder. The characteristic
features consist of late onset-lymphedema and distichiasis together
with other occasionally seen features including varicose vein, cleft
palate, ptosis, and congenital heart diseases. FOXC2 is the gene found
to be associated with this syndrome. We report here the first Thai
patient who has characteristic features of this syndrome and the
infrequently described features including ankyloglossia, and Robin
sequence which consists of glossoptosis, cleft palate, and
micrognathia. Mutation analysis of FOXC2 revealed c. 595-596 insC.
http://www3.interscience.wiley.com/journal/123300088/abstract?CRETRY=1&SRETRY=0