Congenital Transverse Defects of Limbs and Digits: (`Intrauterine Amputation')

Intrauterine amputation of the extremities is an uncommon and peculiar congenital deformity which is characterized by the absence of one or more distal limb portions.Termination of the proximal part is usually abrupt and bears no apparent relation to anatomical boundaries.The term 'amputation' suggests separation, by mechanical force, of a limb already formed rather than a failure of develop- ment, but such a view of the pathogenesis of this abnormality is far from universally accepted.It would probably be better to use a neutral term such as 'transverse defects', but for the conservatism of medical nomenclature.Circular grooves around the digits or limbs, and similar soft tissue defects, also known as ring con- strictions, are seen usually in association with 'intra- uterine amputation', but also on their own.Here again, there is no agreement regarding the aetiology but, whatever it is, there can be little doubt about the relation of these circumferential soft tissue lesions to transverse defects of the bones.Little or no information on this subject is found in textbooks of general pathology, obstetrics or paediatrics.References to other cases are scanty and hard to find, but there is really a great wealth of bibliographic material.A helpful introduction to the history of the problem and to other reported accounts is given by Lennon (1947).Interest in congenital deformities is age-old, but had been focused for a long time on the more spectacular and awe-inspiring monstrosities.Defects of digits and limbs that look similar to those caused by accidents or deliberate wounding or, indeed, the surgeon's knife were hardly considered interesting by the teratologists of antiquity and Renaissance times.* Some of the material was presented and discussed at a demon- stration meeting of the Royal