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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
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Abstract

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.

Keywords

musculoskeletal - rare disease - radiography - skeletal dysplasia - congenital


Publication History

Article published online:
21 May 2021

© 2021. Thieme. All rights reserved.

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