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de Morsier's syndrome III
Also known as:
Hoyt-Kaplan-Grumbach syndrome
Associated persons:
Melvin M. Grumbach
William F. Hoyt
Selna L. Kaplan
Georges de Morsier
Description:
Trias of dwarfism, nystagmus, and micropupil. A birth defect characterized by a malformed optic disk and nerve, pituitary deficiencies and often the absence of the septum pallucidum which separates the ventricles of the brain and/or corpus callosum. As a consequence of these abnormalities, visual impairment and inadequate growth hormones may occur. Other features include growth retardation and sometimes mental retardation or learning disabilities.
The numbering of de Morsier's syndromes is by this author.
Bibliography:
- D. L. Reeves:
Congenital absence of septum palludicum.
The Johns Hopkins Medical Journal, Baltimore, 1941, 69: 61-71.
Reeves first reported the condition as a separate entity.
- G. de Morsier:
Études sur les dysraphies, crânioencéphaliques. III. Agénésie du septum palludicum avec malformation du tractus optique. La dysplasie septo-optique.
Schweizer Archiv für Neurologie und Psychiatrie, Zurich, 1956, 77: 267-292.
- W. F. Hoyt, S. L. Kaplan, M. M. Grumbach, J. S. Glasser:
Septo-optic dysplasia and pituitary dwarfism. Lancet, London, 1970, 1: 1893.
- S. L. Kaplan, et al:
A syndrome of hypopituitary dwarfism, hypoplasia of the optic nerves, and malformations of the prosencephalon: Report of six patients.
Pediatric Research, Baltimore, 1970, 4: 480-481.
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