Clinical characteristics and genetic identity of the basal cell naevus syndrome (Gorlin Goltz syndrome) (Afrikaans)

Breytenbach H.S. ; Gericke G.S. ; Muller C.J.B. (1975)

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The clinical, genetic, radiological, dental and dermatological aspects of 3 patients with the autosomal dominant basal cell naevus syndrome are reported. An analysis of the phenotypic features of 72 cases described in the literature is presented and compared with a previous analysis. Ash leaf hypopigmentation similar to that found in tuberous sclerosis represents a unique finding in this syndrome. Other similarities to the phacomatoses are discussed. The authors were able to support a previous report that patients with the basal cell naevus syndrome have a normal end organ response to parathormone stimulation, and that it is most probably not related to pseudohypoparathyroidism, as suggested in earlier reports.

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