• Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2
• Dutch variant of Bellini metaphyseal dysplasia: report of two siblings
• Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
• Further case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia)
• Metaphyseal acroscyphodysplasia
• Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs
• Structural and vascular features in cavitary congenital optic disc anomaly associated with metaphyseal acroscyphodysplasia