Ectromelia

Abstract

Ectromelia derives from the Greek word ectroma (abortion) and melos (limb), and with this denomination, we mean the total or partial absence of one or more limbs or part of it. The defects may concern the transverse or longitudinal plane and are therefore divided into transverse ectromelia (amelia, phocomelia, transverse hemimelia) or longitudinal ectromelia (longitudinal, medial, or lateral hemimelia).

The message is to answer, when performing the ultrasound, especially during the second trimester, to the question: “There are all four limbs, and there are no gross biometric differences between one side and the other,” which is fundamental in the study of long bones. For the sonographer, it is sufficient that he measures a single femur and observes its regular biometry and makes a comparison, even if rough, with the opposite side, and it would be better if he placed both diaphyses on the screen also to compare their regular morphology.

The same criterion must be set for the humerus, which must also be measured. The same study must be done for the mesomelic structures of the upper and lower limbs, by performing the biometry of at least one of them (radius or ulna; tibia or fibula). Subsequently, the mesomelic structures on both sides must be observed, where the evaluation of such a biometry is, in general, subjective.

Diagnostic recognition is high for the study of rhizomelic and mesomelic structures, while it is low for acromelic ones where it will be difficult/impossible to establish the number of digital structures present and it will be equally difficult to exclude a clubhand.