Abstract
Skeletal dysplasias are disorders of bone formation. There are many dysplasias that have been identified and studied over the years and long lists of radiological features have been documented; it is not possible to remember all of them, most of which are common to more than one dysplasia. This article is about a practical approach to the radiological diagnosis of skeletal dysplasias by viewing only a few radiographs rather than the entire skeletal survey. The radiographs that are to be studied are AP view of the pelvis, dorsolumbar spine– AP and lateral view and both hands PA view, in that order. The skull lateral view and both knees AP view are sometimes required. The authors advice to set out with the pelvis that provides information of not only the pelvic bones but also parts of the lumbar spine and the upper ends of the femur including their epiphyses, metaphyses and a part of the diaphyses. Sometimes the diagnosis is reached with only this one radiograph, as in achondroplasia or it may indicate a group like mucopolysaccharidoses which can be sorted out with radiographs of the spine and hands or the upper part of the femur can provide a cue to epiphyseal and metaphyseal dysplasias. Gamuts and atlases can be consulted for the rare dysplasias.
Similar content being viewed by others
References
Carty H, Brunelle F, Shaw D, Kendall B. Imaging children. New York: Churchill Livingstone; 1994.
Alanay Y, Lachman RS. A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol. 2011;3:163–78.
John E. Skeletal dysplasia. IAP J Pract Pediatr. 1998;6:267–72.
Matsui Y, Kimura T, Tsumani N, et al. A common FGFR3 mutation functions as a diagnostic marker for achondroplasia –group of disorders in the Japanese population. J Orthop Sci. 1996;1:130–5.
Kozlowski K, John E, Masel J. Neonatal platyspondylic dwarfism- a new form. Br J Radiol. 1995;68:1254–6.
de Vries J, Yntema JL, van Die CE. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr. 2010;169:77–88.
McKusick VA. Ellis-van Creveld syndrome and the Amish. Nat Genet. 2000;24:203–4.
Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50:V41–8.
Weaver DD. Dyggve-Melchior-Clausen syndrome. In: Edwards G, editor. NORD guide to rare disorders. Philadelphia: Lippincott Williams & Wilkins; 2003. p. 180.
Albury WR, Weisz GM. Henri de Toulouse-Lautrec and medicine: a triumph over infirmity. Hektoen Int. 7(1) Winter 2015. Available at http://www.hektoeninternational.org/Toulouse.
John E, Kozlowski K, Masel J, Muralinath S, Vijayalakshmi G. Dysosteosclerosis. J Med Imaging Radiat Oncol. 1996;4:345–7.
Jenny C. Evaluating infants and young children with multiple fractures. Pediatrics. 2006;118:1299–303.
Shore R. Hypophosphatasia. In: Slovis T, editor. Caffey’s pediatric diagnostic imaging. 11th ed. St. Louis: Mosby/Elsevier; 2011. p. 2736–9.
Cundy T. Idiopathic hyperphosphatasia. Semin Musculoskelet Radiol. 2002;6:307–12.
Jeanty P, Valero G. The assessment of the fetus with a skeletal dysplasia. Nashville: Women’s Health Alliance. Available at: www.sonoworld.com/Client/Fetus/files/skeletal_eng.PDF. Accessed 19 Aug 2015.
Ghosal SP, Mukherjee AK, Mukherjee D, Ghosh AK. Diaphyseal dysplasia associated with anemia. J Pediatr. 1988;113:49–57.
Kozlowski K, Beighton P. Gamut index of skeletal dysplasias- an aid to radiodiagnosis. 3rd ed. London: Springer; 2001.
Lachman RS. Taybi & Lachman’s: radiology of syndromes, metabolic disorders and skeletal dysplasias. 5th ed. Philadelphia: Mosby; 2006.
Spranger JW, Brill P, Superti-Furga A, Unger S, Nishimura G. Bone dysplasias-an atlas of genetic disorders of skeletal development. 3rd ed. London: Oxford University Press; 2012.
Jones KL. Smith’s recognizable patterns of human malformation. 6th ed. Philadelphia: Elsevier Saunders; 2006.
Guarantor
VG will act as guarantor for this paper.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of Interest
None.
Source of Funding
None.
Rights and permissions
About this article
Cite this article
Gajarajulu, V., Natarajan, B. & Muralinath, S. The Radiograph of the Pelvis as a Window to Skeletal Dysplasias. Indian J Pediatr 83, 543–552 (2016). https://doi.org/10.1007/s12098-015-1919-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12098-015-1919-8