Abstract
Genetic skeletal disorders comprise two broad categories, including skeletal dysplasia and dysostosis. Skeletal Please check if edit to sentence starting “Skeletal dysplasia refers…” is okay. dysplasia refers to a heterogeneous group of conditions in which there is a widespread disturbance of bone and cartilage growth, beginning during the early stages of fetal development and evolving throughout life, while dysostoses comprise conditions that occur as a result of embryonic morphogenic defects and individual bones are affected singly or in combination. Despite Please check if edit to sentence starting “Despite recent advances…” is okay. recent advances in imaging, genetic skeletal disorders are difficult to diagnose due to a number of factors, including the large number of genetic skeletal disorders and their phenotypic variability with overlapping features, lack of precise molecular diagnosis for many disorders, and lack of a systematic approach. It is important to realize that a radiological diagnosis of genetic skeletal disorder depends on an overall pattern of skeletal abnormalities rather than a single radiological sign, alone or in combination, and to make good use of diagnostic information from representatives of other disciplines, including clinicians, molecular biologists, and pathologists.
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References
Alanay Y, Lachman RS. A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol. 2011;3:163–78.
Azouz EM, Teebi AS, Eydoux P, et al. Bone dysplasias: an introduction. Can Assoc Radiol J. 1998;49:105–9.
Berrocal T, Simon MJ, al-Assir I, et al. Shwachman-Diamond syndrome: clinical, radiological and sonographic findings. Pediatr Radiol. 1995;25:356–9.
Carter EM, Davis JG, Raggio CL. Advances in understanding etiology of achondroplasia and review of management. Curr Opin Pediatr. 2007;19:32–7.
Dutton RV. A practical radiologic approach to skeletal dysplasias in infancy. Radiol Clin North Am. 1987;25:1211–33.
Dwek JR. Kniest dysplasia: MR correlation of histologic and radiographic peculiarities. Pediatr Radiol. 2005;35:191–3.
Gupta SK, Sharma OP, Malhotra S, et al. Cleido-cranial dysostosis–skeletal abnormalities. Australas Radiol. 1992;36:238–42.
Ihde LL, Forrester DM, Gottsegen CJ, et al. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. Radiographics. 2011;31:1865–82.
Ikegawa S. Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era. J Hum Genet. 2006;51:581–6.
Kannu P, Aftimos S, Mayne V, et al. Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A. 2007;143A:2512–22.
Kornak U, Mundlos S. Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet. 2003;73:447–74.
Lachman RS, Rimoin DL, Spranger J. Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol. 1988;18:93–102.
Lachman RS, Tiller GE, Graham Jr JM, et al. Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. Eur J Radiol. 1992;14:1–10.
Lachman RS, Krakow D, Cohn DH, et al. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol. 2005;35:116–23.
Langer Jr LO, Spranger JW, Greinacher I, et al. Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. Radiology. 1969;92:285–94 passim.
Lemyre E, Azouz EM, Teebi AS, et al. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. 1999;50:185–97.
Levin TL, Berdon WE, Lachman RS, et al. Lumbar gibbus in storage diseases and bone dysplasias. Pediatr Radiol. 1997;27:289–94.
Makitie O, Ellis L, Durie PR, et al. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet. 2004;65:101–12.
Markowitz RI, Zackai E. A pragmatic approach to the radiologic diagnosis of pediatric syndromes and skeletal dysplasias. Radiol Clin North Am. 2001;39:791–802, xi.
Mortier GR. The diagnosis of skeletal dysplasias: a multidisciplinary approach. Eur J Radiol. 2001;40:161–7.
Nishimura G. Genetic basis for skeletal disease. Radiological approach for genetic skeletal disorders. Clin Calcium. 2010;20:1175–81.
Nishimura G, Nakashima E, Hirose Y, et al. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J Med Genet. 2007;44:e73.
Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C? Pediatr Radiol. 2003;33:153–61.
Paterson CR, Burns J, McAllion SJ. Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form. Am J Med Genet. 1993;45:187–92.
Rasalkar DD, Chu WC, Hui J, et al. Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol. 2011;84:469–77.
Sillence DO. Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation. Pediatr Radiol. 1994;24:427–30.
Spranger JW. Metaphyseal chondrodysplasia. Postgrad Med J. 1977;53:480–7.
Spranger JW, Langer Jr LO. Spondyloepiphyseal dysplasia congenita. Radiology. 1970;94:313–22.
Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr. 1994;153:56–65.
Susic S, McGrory J, Ahier J, et al. Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. Clin Genet. 1997;51:219–24.
Unger S, Bonafe L, Superti-Furga A. Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol. 2008;22:19–32.
Vanhoenacker FM, Van Hul W, Gielen J, et al. Congenital skeletal abnormalities: an introduction to the radiological semiology. Eur J Radiol. 2001;40:168–83.
Vanhoenacker FM, Van de Perre S, de Jongh K, et al. Asphyxiating thoracic dysplasia. JBR-BTR. 2004;87:50.
Warman ML, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155A:943–68.
Yang SS, Langer Jr LO, Cacciarelli A, et al. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. Am J Med Genet Suppl. 1987;3:191–207.
Yazici Z, Kline-Fath BM, Laor T, et al. Fetal MR imaging of Kniest dysplasia. Pediatr Radiol. 2010;40:348–52.
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Cheon, JE. (2014). Genetic Skeletal Disorders. In: Kim, IO. (eds) Radiology Illustrated: Pediatric Radiology. Radiology Illustrated. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35573-8_28
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DOI: https://doi.org/10.1007/978-3-642-35573-8_28
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