Septo-Optic Dysplasia in Two Siblings

We treated two siblings, a sister and brother, who had features of septo-optic dysplasia, including bilateral optic nerve hypoplasia, absent septum pellucidum, and partial pituitary insufficiency. Additionally, midline central nervous system abnormalities of the corpus callosum and cerebellum were s...

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Veröffentlicht in:	American journal of ophthalmology 1990-06, Vol.109 (6), p.632-637
Hauptverfasser:	Benner, Jeffrey D., Preslan, Mark W., Gratz, Edward, Joslyn, John, Schwartz, Marcia, Kelman, Shalom
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Agenesis of Corpus Callosum Biological and medical sciences Cerebellum - abnormalities Female Fundus Oculi Humans Hypopituitarism - genetics Infant Magnetic Resonance Imaging Male Malformations of the nervous system Medical sciences Neurology Optic Nerve Diseases - diagnosis Optic Nerve Diseases - genetics Septum Pellucidum - abnormalities Tomography, X-Ray Computed
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Beschreibung
Zusammenfassung:	We treated two siblings, a sister and brother, who had features of septo-optic dysplasia, including bilateral optic nerve hypoplasia, absent septum pellucidum, and partial pituitary insufficiency. Additionally, midline central nervous system abnormalities of the corpus callosum and cerebellum were shown. The familial occurrence of this disorder raises the possibility of autosomal-recessive inheritance.
ISSN:	0002-9394 1879-1891
DOI:	10.1016/S0002-9394(14)72430-4