Imaging of Congenital Skeletal Disorders

Maria Pilar Aparisi Gómez, Giovanni Trisolino, Luca Sangiorgi, Giuseppe Guglielmi, Alberto Bazzocchi

Research output: Contribution to journalArticlepeer-review


Osteochondrodysplasias are the result of the expression of gene mutations. The phenotypes in osteochondrodysplasias evolve through life, with the possibility that previously unaffected bones may be involved at later stages of growth. Due to the variable time of onset, the diagnosis may be made prenatally, at birth, or later. Certainty in the diagnosis is sometimes only achieved as the patient matures and the disease evolves. Radiographic evaluation is a fundamental part of the diagnostic work-up of congenital skeletal disorders and in most cases the first tool used to arrive at a diagnosis. This review describes the imaging characteristics, specific signs, and evolution of several skeletal dysplasias in which diagnosis may be directly or indirectly suggested by radiologic findings. A definitive accurate diagnosis of a congenital skeletal abnormality is necessary to help provide a prognosis of expected outcomes and to counsel parents and patients.

Original languageEnglish
Pages (from-to)22-38
Number of pages17
JournalSeminars in Musculoskeletal Radiology
Issue number1
Publication statusPublished - Feb 2021


  • musculoskeletal
  • rare disease
  • radiography
  • skeletal dysplasia
  • congenital


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