Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare 
congenital condition, characterized by two of the classic triad features: 
midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary 
endocrine dysfunction. We report 5 children with SOD, originally referred to be 
evaluated due to short stature, who also presented bilateral optic nerve 
hypoplasia, nystagmus and development delay. In 4 of the patients, we identified 
neuroimaging abnormalities of the hypothalamo-pituitary axis such as anterior 
pituitary hypoplasia (3/5), ectopic posterior pituitary (4/5), thin or absent 
stalk (3/5) and empty sella (1/5). We also encountered diverse pituitary 
deficiencies: growth hormone (3/5), adrenocorticotropic hormone (3/5), 
thyroid-stimulating hormone (2/5) and antidiuretic hormone (1/5). Only one child 
presented intact pituitary function and anatomy. Although rare, SOD is an 
important cause of congenital hypopituitarism and it should be considered in 
children with optic nerve hypoplasia or midline brain abnormalities for early 
diagnosis and treatment.