Ja. Crameri et al., FAMILIAL TRIAD OF ANORECTAL, SACROCOCCYGEAL, AND PRESACRAL ANOMALIES THAT INCLUDES SACROCOCCYGEAL TERATOMAS, Pediatric surgery international, 10(5-6), 1995, pp. 350-353
We present two Australian families with the triad of anorectal, sacroc
occygeal, and presacral anomalies. In one family four members had sacr
al deformities, three of which were associated with presacral masses a
nd anal stenosis. The presacral masses were: one meningocoele combined
with a teratoma; one teratoma; and the third remains undiagnosed and
unresected at the patient's request. In the second family, one child h
ad an infected presacral teratoma with a small sacral defect and the f
ather had a similar sacral defect with computed tomographic evidence o
f a presacral meningocoele and teratoma. The presence of anal stenosis
and constipation with a sacral defect should raise the possibility of
a presacral mass. The mass may take the form of a meningocoele, terat
oma, enteric cyst, or any combination of these. Once detected, other f
amily members should be investigated.