Lymphedema-distichiasis syndrome

Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

Chylothorax

Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.


合計: 1

                       


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PMID (PMCID)
16419129
 MIXED_SAMPLE Infant, Newborn
Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.
Stevenson DA, Pysher TJ, Ward RM, Carey JC.
Am J Med Genet A. 2006;140(4):368-72.
Mutations in vascular endothelial growth factor receptor-3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema-distichiasis syndrome, and fatal chylothorax in alpha9-deficient mice are potential candidate genes.