We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60 000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Important common features which emerged include short thumbs, severe photosensitivity, aggressive behaviour, and atrioventricular septal defect. The typical facial appearance becomes less obvious with age and 20% of cases did not have 2/3 toe syndactyly. Biochemical measurements of serum 7-dehydrocholesterol did not correlate with clinical severity.(7Med Genet 1998;35:558-565)

Thirty-six malignant polyps were identified that met the following criteria: well-differentiated adenocarcinoma and complete excision endoscopically. Location, type, size, distance of the cancer to the cautery mark, and lymphovascular involvement were analyzed to determine if they affected findings at surgery or risk of recurrent cancer. There were 20 patients and 21 polyps in the nonsurgical group, and 15 patients and polyps in the surgical group. One patient from each group had residual cancer after endoscopic removal of the polyp. The only factor that had an adverse effect on outcome was the distance of the cancer to the cautery mark (< 1 mm). Although rectal location was associated with the residual cancer, poor prognosis could have been predicted by the inadequate margins. This long-term follow-up (65 months average) study supports previous observations that an adequate margin is the most important factor in predicting the prognosis of endoscopically resected colorectal adenomas containing well-differentiated adenocarcinomas.

Adenocarcinomas of the pancreas were experimentally induced in rats after the implantation of 7,12-dimethylbenz[alpha]anthracene (DMBA). Rats were anesthetized with Nembutal, the pancreas was exposed, and a 2- to 3-mm incision was made in the "head" of the pancreas approximately 1 cm from the duodenum. Crystalline DMBA (2-3 mg) was implanted and the incision was closed with silk suture. Eight % of animals developed tumors in the pancreas from 119 to 363 days after implantation (mean, 194 days). Ten animals developed tumors in less than 180 days. The adenocarcinomas were invasive, metastasized, and had pronounced ductal cell characteristics. The light-microscopic morphology of these pancreatic tumors was presented.

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