Introduction

Given the emerging knowledge of embryogenesis involving the sonic hedgehog (Shh) gene and the relationship to both upper and lower intestinal malformations [1-6], it is surprising that more patients with anorectal malformations (ARM) and esophageal atresia/tracheoesophageal fistula (EA/TEF) do not manifest both anomalies. The collections of data over the years have indicated that the coincidence of the major associated anomalies has remained remarkably constant (Table 16.1) [7-10].

In the earlier series reported, the mortality from many of the associated anomalies was higher than it is at present. Unless the ARM is exceedingly complex, the mortality is almost always related to one of the concomitant lesions and not to the ARM itself. At the time of the Survey of the Surgical Section of the American Academy of Pediatrics in 1964 [11] the survival of babies born with EA/TEF was reported at 78% without associated anomalies, whereas at present the survival of these babies born without other anomalies would be expected to approach 100%. In that survey data only 43% of babies born with ARM and EA/TEF survived, whereas at present this combination of lesions would not be expected to be fatal in the absence of major cardiac or chromosomal defects.

Associated anomalies of all types are much more frequent with the more complex ARM. The definitive treatise on this subject, albeit almost 2 decades old, continues to accurately reflect the spectrum of associated malformations correlated with the level of ARM that are seen to this day [8].

The genitourinary malformations are that are commonly seen in babies born with ARM are covered in Chap. 17. In this chapter we will consider only the nongenitourinary malformations, which include EA/TEF, duodenal and other intestinal atresias, Hirschsprung's disease (HD), neuronal intestinal dysplasia (NID), cardiac malformations, and spinal malformations. It is important to remember that al

Table 16.1 Anomalies associated with anorectal malformations. Vert Vertebrae, EA esophageal atresia, TEF tracheoesophageal fistula, GI gastrointestinal, GU genitourinary

Author

Gross 1953 [7]

Kiesewetter 1981 [8]

Smith 1988 [9]

Ratam 2005 [10]

Totals

No. of patients

507

317

246

416

1,479

% anomalies

40 %

54%

61%

58%

51%

Vert/Skeletal

5%

6%

26%

41%

19%

Cardiovascular

8%

7%

9%

10%

9%

EA/TEF

4%

9%

4%

6%

7%

GI other

5%

4%

8%

9%

6%

GU system

16%

40%

25%

39%

29%

most any condition seen in a newborn child may occur with an ARM, but the most commonly occurring ones are covered in this chapter. It may be that the same embryogenic events that produce EA/TEF are responsible for the development of an ARM. It is not known that duodenal atresia (DA) is related embryo-genically to ARM, but the incidence of DA is significant enough to warrant consideration herein. Other intestinal atresias seem to be a result of vascular accidents far beyond the embryologic stage and are only rarely found in association with ARM. The septation defects that comprise the majority of cardiac malformations seen in patients with ARM are probably only randomly associated with the ARM. The surgical treatment of cardiac anomalies will not be covered in detail. Since cardiac malformations are the most common associated malformations that can threaten the survival of the child, they must be investigated before the ARM is definitively treated.

Many of the vertebral anomalies associated with pelvic malformation, while not life-threatening, have a profound impact upon the functional outcome of the surgical treatment of ARM. The surgical treatment of spinal anomalies, specifically tethered cord, will be addressed in Chap. 18.

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