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A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.

Neuropediatrics - 1 Jun 2024

Pasca Ludovica, Politano Davide, Cavallini Anna, Panzeri Elena, Vigone Maria Cristina, Baldoli Cristina, Abbate Marco, Kullmann Gaia, Marelli Susan, Pozzobon Gabriella, Vincenzi Gaia, Nacinovich Renata, Bassi Maria Teresa, Romaniello Romina

Abstract excerpt

Septo-optic dysplasia (SOD) syndrome is a rare congenital disorder characterized by a classic triad of optic nerve/chiasm hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis.Herein, we report the clinical case of 2-year-old boy presenting with psychomotor delay, nystagmus, congenital hypothyroidism, and a clinically relevant growth delay. The...

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PMID: 37343586
DOI: 10.1055/a-2114-4387

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