Distichiasis of the lids and lymphedema of the lower extremities: a report of ten cases.
Ten members belonging to two different families were affected by distichiasis of the lids (double row of eyelashes) and lymphedema of the lower extremities. Other less frequent congenital anomalies, such as pterygium colli and ptosis were found in some affected members. The previously reported cases were reviewed. A single pleiotropic gene with a high penetrance and a variable expressivity is responsbile for the different anomalies of this dominantly inherited syndrome.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001763:Blepharoptosis / Q000150:complications* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000150:complications; D005140:Eyelashes / Q000002:abnormalities*; D005143:Eyelids / Q000002:abnormalities* / Q000601:surgery; D005260:Female; D006801:Humans; D007634:Keratitis / Q000150:complications; D008209:Lymphedema / Q000150:complications* / Q000235:genetics; D008297:Male; D008537:Meibomian Glands / Q000002:abnormalities; D008875:Middle Aged; D009333:Neck / Q000002:abnormalities; D010375:Pedigree