SOST and craniometaphyseal dysplasia: Among the osteosclerotic diseases predominantly affecting the cranial bones, our cohort included four patients with craniometaphyseal dysplasia caused by monoallelic variants in ANKH and two patients with sclerosteosis-1 caused by a biallelic variant in SOST. Craniometaphyseal dysplasia is characterized by craniofacial dysmorphism and progressive sclerosis of the skull and metaphyseal widening.