SOX2 and cartilage-hair hypoplasia: Of the 32 patients with CHH as part of CPHD, 17 had an ectopic posterior pituitary with pituitary stalk interruption on cranial MRI, 3 had septo-optic dysplasia, 6 had severe pituitary hypoplasia (see Methods section), 3 had syndromic CPHD (1 boy with GLI3 mutation, 1 with GLI2 mutation, and 1 with SOX2 mutation), and 3 had CPHD with normal MRI and no identified molecular diagnosis.