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)

The original publication is available at http://www.samj.org.za

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.

Please refer to this item in SUNScholar by using the following persistent URL: http://hdl.handle.net/10019.1/7740
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