Ten members belonging to two different families 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 responsible for the different anomalies of this dominantly inherited syndrome.
|Original language||English (US)|
|Number of pages||4|
|Journal||Journal of Pediatric Ophthalmology and Strabismus|
|State||Published - 1979|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health