American journal of medical genetics 1989-Dec
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
Endast registrerade användare kan översätta artiklar
Logga in Bli medlem
Länken sparas på Urklipp
Nyckelord
Abstrakt
We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.