Combinations of Ocular and Cerebral Malformations with Cranio-facial Dysplasia
- 1 January 1966
- journal article
- research article
- Published by S. Karger AG in Ophthalmologica
- Vol. 152 (1) , 13-36
- https://doi.org/10.1159/000304951
Abstract
Craniofacial dysplasia comprises all deformities in the region of the cranium cerebrale and cranium faciale. These are hypoplasia, hyperplasia, fissure-formation, osseous fusion, and the characteristic dysplasia syndromes. Among those mentioneed are cranioschisis, acrocephalosynadaktylia[long dash]Apert, dysostosis cranio-facialis-Crouzon, dysostosis mandibulo-facialis[long dash]Franceschetti, dysmorphia oculo-mandibulo-facialis[long dash]Ullrich-Fremerey-Dohna, etc. Classification of cranio-facial dysplasia from the morphological point of view is given. Distinction is made between changes of the cranium cerebrale and the cranium faciale; there is noticeable overlapping. Ocular and cerebral defects can be found at the same time. Malformations of the cranium cerebrale (e.g. Apert''s dis ease) occur in a disturbance of the commissural system (aplasia of the corpus callosum), and in the differentiation of the cerebral hemispheres. Rarer are the cerebral deformities of dysplasia of the cranium faciale (syndrome of the 1st visceral arch). Three neuropathological reports are included. Disturbances in the region of the cerebellum are considered. Aplasia of certain nuclei in the medulla oblongata were described. Brief mention (with neuropatho-logical findings) is made of the association of congenital cataract with oligophrenia (Torsten Sjogren''s syndrome). From a combination of morphogenetic reasons and reports of experiments in development animal physiology, it appears that there is a defect of regionally specific '' head organizers''. The minority of cranio-facial dysplasia may be explained by the influence of genetic factors. Much of cranio-facial dysplasia can be traced back to genetic and environmental factors during early ontogenesis. Developmental experimental results suggest that the gene factors determine the sensitivity threshold for the teratogenetic exogenous damage.Keywords
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