DIAGNOSIS OF A FAMILIAR HOLT-ORAM SYNDROM E

Presented is one rare case in a family affected by a Holt similar to G ram-Syndrome. This syndrome is associated with an upper limb malformat ion and a congenital heart disease. In our case we found radiusaplasia on both sides, thenaraplasia on the left hand, a hypoplastic thumb on the right hand. The heart was malformated as a Fallot tetralogy, the left kidney was absent. Four additional affected members of the family are described. By routine ultrasound examination we could not find th is malformation syndrome. In families with affected history ultrasound screening examination should be done on a center for prenatal diagnos is.