Defekt von Femur und Fibula mit Amelie, Peromelie oder ulnaren Strahldefekten der Arme Ein Syndrom

Abstract

Six cases are described in which defects of the femora are associated with deformities of the upper limbs. From the available literature all cases (55) were selected in which femoral defects were associated with upper limb deformities. It became apparent that most if not all of these cases belong to a well defined syndrome. Arm deformities associated with femoral defect do not usually include the most common types, but specific rare types, namely amelia, peromelia ending at the level of the elbow, brachioradial synostosis and ulnar defects. In the syndrome in question sometimes either arm shows a different type of these deformities, which is further evidence that all cases may be considered to represent one category. In the majority of cases there is also a defect of the fibula and the fibular rays. The etiology is unknown. Familial occurrence has not been observed. Parental age does not appear to be a factor. In no case was there a thalidomide history. A history of radiation exposure during pregnancy was present in two previously published cases. Other limb deformities associated with radiation exposure in utero are quoted from the literature. Some of them are similar, but not exactly identical to the syndrome in question.

Thalidomide deformities, in which the radial and tibial rays are preferentially affected, are clearly distinct. Similar defects of the femorae and fibulae but not of the arms are occasionally seen in children born to diabetic mothers.