Craniometaphyseal dysplasia: a rare cause of persistent macrocephaly

Craniometaphyseal dysplasia is a rare sclerosing bone disorder that may be difficult to recognise in early childhood. We report a patient initially evaluated in the toddler period for macrocephaly and craniofacial dysmorphism, in whom early neuroimaging was unremarkable, supporting the diagnosis of macrocephaly of infancy. During early childhood, following head trauma, incidental radiological findings revealed progressive cranial sclerosis. Persistent macrocephaly and craniofacial features prompted further investigation, leading to the diagnosis of craniometaphyseal dysplasia, confirmed by identification of a pathogenic ANKH variant. The patient was subsequently enrolled in long-term multidisciplinary follow-up. Into early adulthood, cranial features remained, metabolic parameters remained stable, sensorineural hearing loss did not progress and no neurological or visual complications developed. This case illustrates how the condition may remain unrecognised when early imaging appears reassuring and highlights the importance of revisiting diagnostic impressions when clinical features persist or evolve. Early recognition and coordinated follow-up may help prevent irreversible complications and support favourable long-term outcomes.