[Septo-optic dysplasia: clinical study and elements of genetic counseling].
The authors report two cases of optic hypoplasia associated with neurological abnormalities and discuss the anatomical, pathophysiological and genetic aspects of the "Septo-Optic Dysplasia". This syndrome is not a homogeneous condition. Available data suggest that the septo-optic dysplasia occurs as a consequence of an embryofoetopathy and not of a genetically determined failure of development. The genetic counselling is described.
D005817:Genetic Counseling; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics*; D009900:Optic Nerve / Q000002:abnormalities*; D010641:Phenotype; D012306:Risk; D012688:Septum Pellucidum / Q000002:abnormalities*; D013577:Syndrome
La dysplasie septo-optique: étude clinique et éléments d'un conseil génétique.