Lastly, skeletal dysplasia with pituitary abnormalities is rare and only a few have been described, such as e.g., pycnodysostosis with osteosclerosis, severe skeletal abnormalities and hypopituitarism (32); Cantú syndrome with skeletal and cardiac anomalies and hypertrichosis (33); and patients with SEMA3A variants and a complex phenotype including skeletal and pituitary dysplasia (34). Here, SEMA3A is linked to osteosclerosis.