Shammas H J, Tabbara K F, Der Kaloustian V M
J Pediatr Ophthalmol Strabismus. 1979 Mar-Apr;16(2):129-32. doi: 10.3928/0191-3913-19790301-11.
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.
两个不同家族的十名成员患有睑双行睫(双排睫毛)和下肢淋巴水肿。在一些受影响的成员中还发现了其他不太常见的先天性异常,如蹼颈和上睑下垂。对先前报道的病例进行了回顾。一个具有高外显率和可变表达性的单一多效基因导致了这种显性遗传综合征的不同异常。