Congenital Transverse Defects of Limbs and Digits* ('Intrauterine Amputation') by H
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Arch Dis Child: first published as 10.1136/adc.37.193.263 on 1 June 1962. Downloaded from CONGENITAL TRANSVERSE DEFECTS OF LIMBS AND DIGITS* ('INTRAUTERINE AMPUTATION') BY H. G. KOHLER From the Department ofPathology, Birmingham Maternity Hospital (RECEIVED FOR PUBLICATION OCTOBER 23, 1961) Intrauterine amputation of the extremities is an Thomas Bartholin of Copenhagen (1616-1680) uncommon and peculiar congenital deformity which is said to be the first to mention a congenitally is characterized by the absence of one or more distal deficient extremity. He lived at the very threshold limb portions. Termination of the proximal part of the modern scientific era and belonged to a family is usually abrupt and bears no apparent relation to well known for their contributions to medicine and anatomical boundaries. The term 'amputation' biology: Thomas Bartholin's son, Caspar Secundus, suggests separation, by mechanical force, of a limb was the first to describe the vestibulo-vaginal glands. already formed rather than a failure of develop- Thomas was a man of great learning and wide ment, but such a view of the pathogenesis of this interests (Rhodes, 1957). His textbook on anatomy abnormality is far from universally accepted. It was translated into English and used widely for a would probably be better to use a neutral term such long time. Bartholin's descriptions of monsters, as 'transverse defects', but for the conservatism of however, tend to be more imaginative than factual medical nomenclature. (Hendry and Kohler, 1956). The essay which copyright. Circular grooves around the digits or limbs, and contains a reference to limb defects bears the title similar soft tissue defects, also known as ring con- 'Gravidarum Imaginatio' and there, in passing, he strictions, are seen usually in association with 'intra- tells us of a deformed male infant with only one uterine amputation', but also on their own. Here hand and a club-foot. This sounds credible enough: again, there is no agreement regarding the aetiology we shall hear more of the combination of talipes and but, whatever it is, there can be little doubt about the intrauterine amputation. Bartholin goes on to say relation of these circumferential soft tissue lesions that the infant's mother, the wife of a respectable http://adc.bmj.com/ to transverse defects of the bones. citizen of Copenhagen, had been impressed during Little or no information on this subject is found her pregnancy by the sight of a maimed beggar- in textbooks of general pathology, obstetrics or perhaps a crippled soldier-with one hand cut off paediatrics. References to other cases are scanty and a lame foot, 'cuius speciem nec die nec nocte and hard to find, but there is really a great wealth of potuit oblivisci' (1673). bibliographic material. A helpful introduction to The next work in which I found congenital limb the history of the problem and to other reported defects mentioned is Albrecht von Haller's Elementa on September 28, 2021 by guest. Protected accounts is given by Lennon (1947). Physiologiae (1766); numerous case reports by other Interest in congenital deformities is age-old, but authors are quoted, and it appears that there had had been focused for a long time on the more been a great deal of discussion on the theme of spectacular and awe-inspiring monstrosities. Defects 'intrauterine amputation'. Haller himself is scep- of digits and limbs that look similar to those caused tical about the 'amputation' aetiology, because the by accidents or deliberate wounding or, indeed, the severed portion had never been found-an objection surgeon's knife were hardly considered interesting that even nowadays may still be heard. This by the teratologists of antiquity and Renaissance objection was answered only a few years later by times. a case report in which the missing portion was * Some of the material was presented and discussed at a demon- actually present, though badly shrunken (Schaeffer, stration meeting of the Royal Society of Medicine (Section ofObstetrics 1775). Here again, 'impressions' were blamed. and Gynaecology) on January 24, 1958; publication in print by kind permission of the Honorary Editors, Proceedings of the Royal Society So far, these early reports were all written in Latin. of Medicine. In 1791 Samuel Thomas Soemmerring, Professor of 263 4 Arch Dis Child: first published as 10.1136/adc.37.193.263 on 1 June 1962. Downloaded from 264 ARCHIVES OF DISEASE IN CHILDHOOD Anatomy in Mainz, published a work on malforma- Ballantyne also mentioned a not so well-known tions which was written in German; in this, he tropical disease called Ainhum which affects adults included an illustration of a foetus with multiple and is characterized by ulceration and eventual severe malformations, who had also mutilated demarcation of portions of extremities. Some digits and constriction rings. Some small sheets of authors, including Jeannel (1886), had suggested membrane seemed to be adherent to the circular that 'spontaneous amputations' were caused by lesions. In the description of this case the author foetal Ainhum, i.e. a prenatal degenerative deals with the major developmental abnormalities disease. and makes no comment on the extremital lesions. The degenerative theory was further developed by The first case report in French, I believe, was pub- postulating a primary inferiority of certain localized lished in 1812 by F. Chaussier, Professor and Chief tissues. This line of thinking found its sharpest Physician at the Hospice de la Maternite in Paris. expression in a paper by Streeter (1930) who The earliest available record of a case observed in rejected the aetiological significance of amniotic this country is that of Watkinson (1825), an obscure bands and similar structures, and went so far as practitioner in Soho, whose initials are not even to deny the significance of any intrauterine traumatic known. His case history, however, is clear and process in the causation of deformities. His views brief, and its authenticity is underlined by the fact were widely accepted, especially by embryologists, that the body of the infant and the severed foot were e.g. Sir Arthur Keith (1940), but were opposed by shown to the editors of the London Medical and many pathologists, and in particular by Georg Physical Journal, who appended a drawing of the Gruber (1939), a teratologist of great experience. specimen to the article. Gruber produced some well-documented observa- The idea that amniotic bands, by interfering with tions in support of traumatic aetiology in a limited the blood supply, cause ischaemic necrosis of an group of transverse defects, but at the same time extremity and eventual separation, should be rejected the primitive mechanistic approach to the credited to Montgomery (1832; 1833). What whole field of extremital malformation that still amniotic bands are, and how they may arise, will be lingered. discussed later. Defects alleged to be caused by Gradually it had become apparent that no single copyright. them were included in the large group of 'amniotic theory of causation could explain all lesions labelled malformations'. as 'intrauterine amputation', and the concept was It is worth remembering that, in the past, disorders put forward that some of these cases were due to of amniotic membrane and amniotic fluid were held exogenous, others to endogenous, causes. Birch- to account for many congenital abnormalities. This Jensen (1949) applied this division in his survey of concept may have arisen from observation of certain extremital deficiencies in Denmark. malformations, such as anencephaly, iniencephaly Edith Potter (1952) accepts this classification and and oesophageal atresia, which are regularly asso- proposes practical criteria for each of the two http://adc.bmj.com/ ciated with polyhydramnios, while on the other categories; these criteria will be applied in the hand sirenomelia, renal aplasia and congenital interpretation of the present findings and will be urethral obstruction are almost invariably accom- discussed more fully later on. On the question of panied by oligohydramnios. Nowadays we regard aetiology, Potter concludes that 'the cause of exo- excess or lack of amniotic fluid as an effect of foetal genous spontaneous amputation is unknown', but malformation rather than its cause. However, it is 'the fact that it is occasionally possible to make out not to be denied that both oligohydramnios and attachment of such abnormal extremities to the on September 28, 2021 by guest. Protected polyhydramnios may in turn affect the foetus. amnion at the time of delivery, gives support to the As knowledge of malformations accumulated, idea of amniotic abnormality as an aetiological a more critical attitude was taken with regard to agent for this particular malformation'. their causation. New information came from the There are limitations to the useful application of practice of experimental teratology and from the this dualistic theory of causation; but it is none the young science of genetics. Amniotic malformations less more in harmony with observed facts than any fell into disrepute. attempt to account for all extremital defects by a By the time Ballantyne wrote Manual ofAntenatal single aetiological hypothesis. Pathology and Hygiene (1902, 1904) the problem of Few relevant publications have appeared in this congenital limb deficiency seemed to be involved country during the postwar period. Eckstein and and controversial. Numerous observations, inter- Eckstein (1946) described a newborn infant with pretations and opinions were critically reviewed by multiple circular constrictions that were successfully the author, who himself took a reserved view. corrected by plastic surgery; no obstetric data are Arch Dis Child: first published as 10.1136/adc.37.193.263 on 1 June 1962. Downloaded from 'INTRAUTERINE AMPUTATION' 265 given in this report. On the question of aetiology, CASE REPORTS the authors accept Streeter's view. Lennon (1947) presents a stimulating historical Case 1 review which vividly recaptures the atmosphere of Mother's History.