Semin Musculoskelet Radiol 2021; 25(01): 022-038
DOI: 10.1055/s-0041-1723964
Review Article

Imaging of Congenital Skeletal Disorders

Maria Pilar Aparisi Gómez
1  Department of Radiology, National Women's Ultrasound, Auckland City Hospital, Auckland, New Zealand
2  Department of Radiology, Hospital Vithas Nueve de Octubre, Valencia, Spain
Giovanni Trisolino
3  Pediatric Orthopedics and Traumatology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
Luca Sangiorgi
4  Rare Skeletal Diseases, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
Giuseppe Guglielmi
5  Department of Radiology, Hospital San Giovanni Rotondo, San Giovanni Rotondo, Italy
6  Department of Radiology, University of Foggia, Foggia, Italy
Alberto Bazzocchi
7  Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
› Author Affiliations


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.

Publication History

Publication Date:
21 May 2021 (online)

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