Gorlin's syndrome II
- Arnold J. Capute
- Bruce W. Konigsmark
- David Lawrence Rimoin
- Edmund John Moynahan
- Edward Peirson Richardson, Jr.
- Nancy Burton Esterly
- Robert James Gorlin
Rare inheritable syndrome characterised by:
L – lentigenes (freckles) on the head and neck. [lentiginosis].
E – electriocardiographic conduction abnormalities [EKG-changes].
O – ocular hypertelorismus
P – pulmonary stenosis
A – abnormal genitalia
R – retardation of growth with dwarfism.
D – deafness, sensorineural
Other features can be abnormal pigmentation of the iris and retina, subaortic stenosis and hypertrophic cardiomyopathy. Autosomal dominant inheritance with high penetrance and variation in expression.
The syndrome was first described and named by Robert J. Gorlin, Roy C. Anderson, American paediatrician, Minneapolis, Minnesota; and Michael Blaw, American neuropediatrician, Dallas, Texas. Capute et al in 1969 described a further case of a mother and daughter with congenital deafness and multiple lentigines. The first description of a patient with multiple lentigines and associated symptoms was made in 1936 by Zeisler and Becker.
- R. J. Gorlin, R. Anderson, M. Blaw:
Multiple lentigines syndrome. Complex comprising multiple lentigines, electrocardiographic conduction abnormalities, ocular hypotelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, sensorineural deafness, and autosomal dominant hereditary pattern.
American Journal of Diseases of Children, Chicago, 1969, 117: 652-662.
- A. J. Capute, D. L. Rimoin, B. W. Konigsmark, N. B. Esterly, F. Richardson:
Congenital deafness and multiple lentigines.
Archives of Dermatology, Chicago, 1969, 100: 207-213.
- E. J. Moynahan:
Progressive cardiomyopathic lentiginosis: First report of autopsy findings in a recently recognized inheritable disease (autosomal dominant).
Proceedings of the Royal Society of Medicine, London, 1970, 63: 448-4451.