• Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2
• Brachydactyly type A1 with abnormal menisci and scoliosis in three generations
• Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings
• Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature
• Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5
• Christian's spondylo-digital syndrome: second familial case
• Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review
• Disproportionate short stature, type E brachydactyly and exostoses of tibiae in a patient with an XYY karyotype. A 'new' syndrome?
• FATCO syndrome--fibular aplasia, tibial campomelia and oligosyndactyly
• Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report
• Metaphyseal acroscyphodysplasia
• New skeletal dysplasia with unique brachydactyly
• New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family
• Specific acromesomelia with facial and renal anomalies: a new syndrome