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Research Article Open access CC BY 4.0

Skeletal Dysplasia: Approach to Simplify Diagnosis, Looking for Radiographic Clue Signs

Hazar Tabban, Tahiya A. Salem, Khaled Y. Salem

Asian Journal of Medicine and Health · pp. 65–76 · Published 3 Dec 2022

10.9734/ajmah/2022/v20i12771

Abstract

Skeletal dysplasia is a heterogeneous group of disorders affecting the growth of bones and cartilage. Diagnosis can be difficult for many reasons; they are over 400 diseases, and some are rare and might have atypical presentation when clinical manifestations and radiological findings might not match the classical picture of the specific disorder. The final diagnosis of a skeletal dysplasia is a combined workup that includes clinical examination, family history, radiological assessment (skeletal survey and other investigations), and finally the laboratory, molecular and genetic assessment. These all steps require tertiary centers, therefore, the primary clinical practice would require a tool-kit to help identify the most common skeletal dysplasia easily and identify the most important features of uncommon or rare disorders. The combined clinical assessment and radiological assessment can together reach this goal. The aim of this article is to spotlight on few important checkpoints to help the clinician and radiologist to narrow the differential diagnosis in the primary evaluation before the referral, if available, for molecular and genetic study. This article will focus on essential initial steps in diagnosis and some clue diagnostic features in the skeletal survey images that are classic for the most common disorders.

Skeletal dysplasia skeletal survey achondroplasia diagnosis radiology

References (27)

  1. 1 Nosology and classification of genetic skeletal disorders: 2019 revision [DOI]
  2. 2 The birth prevalence rates for the skeletal dysplasias. [DOI]
  3. 3 The skeletal dysplasias [DOI]
  4. 4 Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management [DOI]
  5. 5 Imaging findings of mucopolysaccharidoses: a pictorial review [DOI]
  6. 6 International nomenclature and classification of the osteochondrodysplasias (1997) [DOI]
  7. 7 Radiographic features of osteogenesis imperfecta [DOI]
  8. 8 A Review of the Principles of Radiological Assessment of Skeletal Dysplasias [DOI]
  9. 9 Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia [DOI]
  10. 10 Brain and Bone Abnormalities of Thanatophoric Dwarfism [DOI]
  11. 11 Osteopetrosis: Radiological & Radionuclide Imaging [DOI]
  12. 12 Pelvic radiograph in skeletal dysplasias: An approach [DOI]
  13. 13 Cleidocranial Dysplasia: A Clinico-radiographic Spectrum with Differential Diagnosis. [DOI]
  14. 14 Pictorial review: imaging of the spinal manifestations of achondroplasia [DOI]
  15. 15 Early characteristic radiographic changes in mucolipidosis II [DOI]
  16. 16 Pyle metaphyseal dysplasia.
  17. 17 Spine radiograph in dysplasias: A pictorial essay [DOI]
  18. 18 Prenatal diagnosis of osteogenesis imperfecta [DOI]
  19. 19 Pycnodysostosis: A rare cause of short stature [DOI]
  20. 20 A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia [DOI]
  21. 21 Ellis-van Creveld Syndrome: A Case Report [DOI]
  22. 22 A mini review on neurofibromatosis type 1 from the radiological point of view [DOI]
  23. 23 Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome [DOI]
  24. 24 Hurler syndrome (Mucopolysaccharidosis type I) [DOI]
  25. 25 Holt-Oram: when the key to a broken heart is in the hand [DOI]
  26. 26 Radiological Diagnosis of a Neonate with Mucolipidosis II (I-Cell Disease) [DOI]
  27. 27 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS [DOI]

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