GH1 and hyperinsulinemic hypoglycemia, familial, 4: Specifically, the BMP4 variants p.Arg300Pro (VUS) and de novo p.Trp265Ter have been identified in heterozygosity in two patients with CPHD; on neuroimaging, these patients presented hypoplastic anterior pituitary gland, ectopic posterior pituitary, and absent pituitary stalk, as is the case in our patient, while clinically they presented sclerosed nodules at the hands, short metacarpals IV, azoospermia [29] and, GH and TSH deficiencies [30].