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

Abstract

This paper is based on the clinical, radiological and pathological records of 4 cases of congenital transverse defects of extremities[long dash]3 live-born infants and 1 fetus of 24 weeks gestational age. Case 1 is classified as an endogenous defect with a relevant hereditary history; the child is of school age now and making good progress; Cases 2 and 4 are examples of exogenous intrauterine amputation; in the former the infant died very soon after birth, in the latter, the infant is surviving. Case 3, the fetus of a secondary abdominal pregnancy, cannot be classified with certainty as either endogenous or exogenous. The division of transverse extre-mital defects into those of endogenous and of exogenous causation helps our understanding of the problem; the criteria must not be applied too rigidly, and there are cases which cannot be classified. Endogenous defects are considered to be true developmental malformations. With regards to exogenous defects, the theory of amnio-genie amputation, far from having been "explained into complete oblivion" (Blackfield and Hause, 1951), is still in the center of discussion. This theory receives qualified support by the evidence presented in 2 case reports as well as by the findings of other authors reviewed in this article. Further critical study with careful observations, especially in the field of clinical obstetrics, is needed to find out the exact how and why. Any attempt to "solve" this problem by just denying its existence is a retrogressive step.