Genetic study of a family suffering from Gorlin’s syndrome

Abstract

Four cases of Gorlin’s syndrome occurring in one family are described. Family memberI₂ marriedI₁; one of their daughters had the syndrome. The man married for the second time, and two of his children inherited the syndrome. The patients showed many of the characteristic features of the syndrome, such as jaw cysts, basal cell carcinoma, calcification of the falx cerebri, palmar or plantar dyskeratotic pits, congenital cataract, polydactyly, benign cysts and tumors. The symptom complex appeared to be inherited in an autosomal dominant pattern.

We have not found any numerical and structural abnormalities in cultured lymphocytes of the patients, but the SCE frequency was significantly higher in patients than in normal individuals. Recognition of this syndrome is extremely important, especially in children, because of the malignant potential and the need for seeking genetic consultation.

Keywords

Gorlin’s syndrome / basal cell nevus syndrome / basal cell carcinoma

References

[1] FitzpatrickPJ, et al. . Gorlin’s syndrome, or nevoid basal cell carcinoma syndrome. Canad Med Assoc J, 1982, 127: 465-70

[2] GorlinRJ, et al. . Multiple nevoid basai cell carcinoma syndrome. Syndrome of the head and neck, 1976ed. 2New York, McGraw-Hill Book Co: 520-66

[3] RaterCJ, et al. . Basal cell nevus syndrome. Am J Roent Rad Therap and Nucl Med, 1968, 103: 589-94

[4] 1983;12(2):131–3.