[Septo-optical dysplasia: oligosymptomatic form (author's transl)].
It is reported on a nine year old boy with the oligosymptomatic form of the septo-optical dysplasia de Morsier: congenital nystagmus with nearly complete loss of visus due to a hypoplasia of the opticus-nerve of both sides, growth retardation (dwarfism) because of STH-deficiency and lack of the gonadotropins. The septum pellucidum is present. The cause of this embryologic malformation within the prosencephalon is not known.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D004393:Dwarfism, Pituitary / Q000175:diagnosis; D006062:Gonadotropins / Q000172:deficiency; D006801:Humans; D008297:Male; D009759:Nystagmus, Pathologic / Q000151:congenital; D009900:Optic Nerve / Q000002:abnormalities; D012688:Septum Pellucidum / Q000002:abnormalities; D013577:Syndrome; D014786:Vision Disorders / Q000175:diagnosis
D006062:Gonadotropins
Oligosymptomatische Form der septo-optischen Dysplasie.