Paper - Note on a case of defective development of the diaphragm, accompanied by stenosis of the anal canal (1918)

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Fish OG. and Potter OG. Note on a case of defective development of the diaphragm, accompanied by stenosis of the anal canal. (1918) J Anat. 53(1): 26-31. PMID 17103856

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This 1918 paper by Fish and Potter describes abnormal development of the diaphragm, accompanied by stenosis of the anal canal.



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Note on a Case of Defective Development of the Diaphragm, accompanied by Stenosis of the Anal Canal

By Miss O. G. Fisk and Miss O. G. Potter, Girton College, Cambridge



The subject of this note was a newly-born male infant (fig. 1) rather below the normal standard in weight. and size. No history is available. Until the abdqmen was opened, no abnormality was suspected, nor was the cause of death evident.


Fig. 1. General view of the human foetus with incomplete diaphragm. The abdominal viscera have been exposed by removal of the abdominal wall. The outlines of the sternum, costa] cartilages, heart, and vermiform appendix (in the thorax) have been projected from a drawing of these parts in a deeper dissection.

In dissection, the course of the umbilical vein towards the ductus venosus was first followed, and when the abdomen was opened, the disposition of its contents attracted attention at once. Only the liver and part of a muchdistended colon appeared (fig. 1). On raising the liver, no sign of the stomach could be seen, nor was any part of the small intestine visible. A defect in the left part of the diaphragm was then suspected and soon ascertained. The viscera missing from the abdomen were found in the thorax. Their presence in that region is ascribed to abnormal intra-abdominal pressure. This in turn was determined by the distension of the colon and the rectum. And finally, stenosis of the anal canal seems to have determined the distension of the large intestine. So narrow was the passage in the lower part of the gut (05 mm.) that the condition of imperforate anus was first diagnosed. Subsequently the examination of serial sections revealed the existence of a ‘very narrow channel.


Fa. 2. The thoracic conténts exposed in situ. The heart and the thymus are seen on the right side of the cavity. ‘The lungs are masked by the heart and by the intrusive abdominal viscera.

Fig. 2 shows the disposition of viscera in the thorax. The intrusive viscera having arrived on the left side, pushed the heart to the right, concealing the left lung. In front of that lung, the abdominal viscera included two “loops” of the alimentary canal. (Cf. Cockayne and Gladstone(1), p. 90: “stomach-loop” and “‘intestino-colic loop.”) Other viscera were present, as shown in the following list:

Stomach-loop eek with great omentum. Liver Part of left lobe. (Part of Duodenum. (rea of Pancreas. Intestino-colic | Jejunum. loop io Caecum with Appendix. A large part of the Colon. The presence of a left pleural membrane cannot be excluded absolutely, though this structure was almost certainly absent. The appearances pointed to the persistence of continuity between the abdominal cavity and the left pleural cavity. The pericardial sac and the right pleural sac were distinct from these and from each other.

The condition (fig. 8) constitutes a hernia of abdominal viscera into the thoracic cavity.

Ballantyne 2) has described. this particular form as a “spurious” hernia, but a true hernia was also present, for the spleen had passed rightwards across the middle line. It had made its way between the oesophagus (in front) and the thoracic aorta (behind). To the right of these structures, the spleen had invaginated. the right pleural membrane, and was-“herniated”’ into the right pleural sac. Meyer(4) records a similar condition in a newly-born lamb.

The margin of the aperture in the diaphragm (fig. 4) was free for the greater part, and the aperture had a diameter of about 35 mm. The apertures for the inferior vena cava, aorta and oesophagus were present and (as usual) independent of cach other. Both crura of the diaphragm presented normal features. Both phrenic nerves passed to the diaphragm, that on the left side going to the muscular tissue in front of (ventral to) the aperture. The right side of the diaphragm was normally formed.


Fig. 3. Dissection of the thoracic and abdominal viscera, showing: The left lung, which is small and contracted. The heart on the right side of the thorax. The aortic arch and the ductus arteriosus crossed by the left vagus. The stomach in the thoracic cavity, with the spleen above and behind it. The cavity beneath the left lung, whence the spleen has been withdrawn. The diaphragm, through which pass the oesophagus (twice), the duodenum (twice), the pancreas, and the descending colon.


The lesser omentum sprang from the margin of the abnormal aperture. The left lobe of the liver was deeply incised by this margin, but was not directly attached to it. With a little manipulation the liver could be withdrawn entirely into the abdomen. Similarly the intestine and colon were not attached to the thoracic wall in any part, and in fact all the intrusive viscera could be extracted from the thorax without rupturing any adhesions.

The abdomen contained the greater part of the liver which was rather smaller than usual. The first part of the duodenum with the head and body of the pancreas were also in the abdominal cavity.

The urogenital organs presented only two unusual features, viz. (1) that the ureters were less sacculated than usual, and (2) the capsular and renal veins of the left side were abnormal. One of the two left renal veins passed dorsally to the aorta before entering the inferior vena cava.


Fic. 4. Semi-diagrammatic sketch of the upper surface of the diaphragm removed from thorax, and approximately of natural size though foreshortened. The central tendon has the extent shown in the figure, but is not so clearly marked off from the contractile part of the muscle. Numbers refer to details as follows: 1. Aperture through which the abdominal viscera entered the thorax 2. Aperture for oesophagus. 3. Aperture for inferior vena cava. 4. Interval between the muscle fibses attached to the ensiform cartilage and those attached to the seventh costal cartilage. 5. Aperture for aorta. 6. Fascijal tissue over the area corresponding to the defect on the left side. 7. Point at which the left phrenic nerve perforated the diaphragm.

The testes were in the scrotum, and the bladder presented no abnormality. In particular, the bladder bore the normal relation to the anal canal. Ureters and urethra were pervious. The stenosis of the anal canal has been described already.

Among the thoracic organs the left lung was remarkable for its small size. Probably it had never expanded in post-natal life. Independently of this, its small size was evidently due to the pressure to which it had been exposed. Its ligamentum pulmonale passed towards the pericardium at a level above the displaced spleen, but the lung itself was free from all attachments save at its root. No accessory lobes were present, and only one pulmonary vein passed to the heart from this lung.

The small size of the left lung suggests that death may have been due to asphyxiation after birth. This view is supported by the fact that the great veins close to the heart were extremely distended and contained blood clots. The thymus was smaller than usual but retained its usual relation to the pericardial sac.

The heart presented no evident anomaly save that the right auriculo-ventricular orifice was very widely open and the tricuspid valve flaps looked as though they had been incompetent to prevent regurgitation. Fixation (by formol) presents a confident assertion on this point. The only other notable feature in the region of the heart was the intra-thoracic extent of the inferior vena cava. This was longer than usual and the pericardium came to be reflected round it on every side.

The right lung presented no anomaly save a small flattened papillomatous-like lobule on its diaphragmatic aspect. No other accessory lobe was present. The right pleural membrane was invaginated by the spleen as described above.

A careful dissection of the head and neck revealed no abnormal conditions in these parts.

The specimen exhibits conditions calling for such comments as those which follow.

(a) It is probable that on the left side, the pleuro-peritoneal canal was never closed. If that were so, then the stomach (and the parts of the gut immediately adjacent to it) might have commenced to move into an abnormal position at about the 8th week of intra-uterine life. For the pleuro-peritoneal canals are probably closed by the time the embryo has attained a length of 19 mm. (Mall, Johns Hopkins Bulletins, XII. Nos. 121, 122, 128, p. 88).

(b) The freedom of the intrusive viscera within the thorax precludes an appeal (such as has been made in another instance by Cockayne and Gladstone) to the retention of the gut in an early developmental position.

(c) The thorax contained a “‘stomach-loop” and an “‘intestino-colic loop”’ (cf. Cockayne and Gladstone, op. cit., p. 90). Though the stomachloop might have passed to its abnormal position at the early stage suggested in paragraph (a), yet in regard to the intestino-colic loop, doubt must exist as to whether it began to deviate before or after its return from a temporary sojourn in the coelom of the umbilical cord. Indeed it is not certain that in this specimen the gut ever occupied a position in the umbilical coelom. Assuming that it did so, and further that the deviation took place upon its return from that place, the aberration may have occurred at any time from about the 10th week onwards. The foetus would at the earlier date provide a length measurement of about 40 mm. The stenosis of the anal canal may be supposed to have become effective soon after the formation of that passage, i.e. the evidence would seem here to point to the 9th or 10th week as the time at which the abnormal movement of the viscera was initiated.

(d) As against the view that the malformation commenced as early as the 10th week, we should remark that the functional activity of the ileocaecal valve may not be liable to be called to account so early. For Broman (3) (p. 850) states that this valve is first recognisable only in the course of the fourth month.

(e) The absence of umbilical hernia seems remarkable. For the anal canal (though present) is actually so narrow as to render the condition nearly identical with that of imperforate anal membrane. In this connection the following records are worth recalling, though their significance is not quite clear. Thus, in two. examples of imperforate anus (in the Cambridge Collection), umbilical hernia is seen without diaphragmatic hernia. Again, - Note on a Case of Defective Development of the Diaphragm 31

Keith(5 b) published a list of defects associated with imperforate anus, but the list does not include diaphragmatic hernia. Lastly, Ballantyne (op. cit.) published a list of defects associated with the diaphragmatic hernia, but does not give prominence to imperforate anus among these.

(f) In spite of the low degree of correlation between (1) these forms of diaphragmatic hernia and (2) obstruction (whether partial or complete) to the passage of meconium in the alimentary canal, it appears reasonable to conclude that such obstruction has been effective in the present instance by causing distension of the rectum and colon. The parts of the alimentary canal were caused to seek relief from pressure. In the present instance, the path of least resistance was found in the region of the left pleuro-peritoneal canal, although the commoner result would seem to be the production of an umbilical hernia. The path actually followed seems from the records published by Keith (5 a) to be that which is most frequently followed when the diaphragm is abnormally traversed by any of the contents of the abdomen.

In conclusion we desire to express our thanks to Dr Duckworth for his help in preparing these notes for publication, and for the illustrations.


References to Literature

(1) CockayNE and Guapstong. Journ. of Anatomy, vol. Li1. Part 1, Oct. 1917, pp. 64 et seg.

(2) BattantynE. Manual of Antenatal Pathology and Hygiene, 1904, p. 477.

(3) Broman. Normale und abnorme Entwicklung des Menschen, 1911.

(4) Meyer. Journ. of Anatomy and Physiology, vol. xiviu. Part 2, Jan. 1914, pp. 107 et seg.: and see especially p. 167.

(5) Kurrn. (a) British Medical Journal, 1910, Oct. 29, p. 1297. (6) British Medical Journal, 1908, Deo. 12, 19, 26, especially p. 1741.

(6) The remarks (on diaphragmatic hernia in the foetus) in Todd and Bowman’s Cyclopaedia of Anatomy aré worthy of reference. In that publication the case of complete absence of the diaphragm recorded by Diemerbroek is mentioned.

(7) Defective diaphragmatic development is on record (cf. Meyer, ref. 4 supra) as occurring in other animals than Man. In May 1918, a specimen of Cephalothoracopagus (in the pig) was received at the Cambridge Anatomy School. Two diaphragms are present. One of them has both pleuro-peritoneal passages open, and the other diaphragm has one such passage patent. All these passages transmit lobules of liver into the respective thoraces. No external genitalia exist, though each body has an anal orifice.



Cite this page: Hill, M.A. (2020, May 25) Embryology Paper - Note on a case of defective development of the diaphragm, accompanied by stenosis of the anal canal (1918). Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Paper_-_Note_on_a_case_of_defective_development_of_the_diaphragm,_accompanied_by_stenosis_of_the_anal_canal_(1918)

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