Subscribe to RSS
Chest X-Ray as the First Pointer in Various Skeletal Dysplasia and Related DisordersFunding None.
Chest X-ray (CXR) is the most commonly used imaging modality. It is commonly used for respiratory or cardiac ailments; however, it is also used routinely as a part of skeletal surveys. In the case of suspected skeletal dysplasia, the viewer is alerted regarding the presence of some skeletal abnormality. But in case of a routine CXR performed for some other reason, it is not uncommon to miss subtle pointers of skeletal dysplasia. Sometimes routine CXR is the first pointer to alert a radiologist toward some generalized skeletal anomaly and therefore, initiate its proper evaluation by the skeletal survey.
Availability of Data and Material
Data available on request.
Contribution of Authors
R.J. contributed to data collection, literature review, and analysis and drafted the manuscript and critical revision. P.N. contributed to data collection, literature review, and analysis and drafted the manuscript and critical revision. N.G. contributed to data collection, literature review, analysis, and critical revision. P.S. contributed to data collection, literature review, and analysis and drafted the manuscript. M.K. contributed to data collection, literature review, analysis, and critical revision. A.K.G. contributed to data collection, literature review, analysis, and critical revision. M.J. contributed to data collection, literature review, and analysis and drafted the manuscript and critical revision.
Article published online:
19 September 2023
© 2022. Indographics. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India
- 1 Mortier GR, Cohn DH, Cormier-Daire V. et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A 2019; 179 (12) 2393-2419
- 2 Palmucci S, Attinà G, Lanza ML. et al. Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imag 2013; 4 (04) 443-459
- 3 Lai LM, Lachman RS. Early characteristic radiographic changes in mucolipidosis II. Pediatr Radiol 2016; 46 (12) 1713-1720
- 4 Tandon A, Bhargava SK, Goel S, Bhatt S. Pseudoachondroplasia: a rare cause of rhizomelic dwarfism. Indian J Orthop 2008; 42 (04) 477-479
- 5 Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH. Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. Radiographics 2000; 20 (05) 1407-1434
- 6 Park Y-K. Multiple enchondromatosis (Ollier's Disease). In: Santini-Araujo E, Kalil RK, Bertoni F, Park Y-K. eds. Tumors and Tumor-Like Lesions of Bone: For Surgical Pathologists, Orthopedic Surgeons and Radiologists. London: Springer; 2015: 253-258
- 7 Kushchayeva YS, Kushchayev SV, Glushko TY. et al. Fibrous dysplasia for radiologists: beyond ground glass bone matrix. Insights Imag 2018; 9 (06) 1035-1056
- 8 Turnpenny PD, Sloman M, Dunwoodie S. ICVS (International Consortium for Vertebral Anomalies and Scoliosis). Spondylocostal Dysostosis, Autosomal Recessive. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K. et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993. [cited 2020 Dec 20].
- 9 Dwek JR. The radiographic approach to child abuse. Clin Orthop Relat Res 2011; 469 (03) 776-789
- 10 Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G. Skeletal ciliopathies: a pattern recognition approach. Jpn J Radiol 2020; 38 (03) 193-206
- 11 de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EAM, Hamel BCJ. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr 2010; 169 (01) 77-88
- 12 Popli MB, Popli V. Ellis-van Creveld syndrome. Indian J Radiol Imaging 2002; 12 (04) 549-550
- 13 Ohashi I, Enomoto Y, Naruto T. et al. A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2 . Hum Genome Var 2019; 6: 40
- 14 Phatak SV, Kolwadkar PK, Phatak MS. Pictorial essay: infantile cortical hyperostosis (Caffey's disease). Indian J Radiol Imaging 2004; 14 (02) 185-186
- 15 Yochum TR, Rowe LJ. Yochum and Rowe's Essentials of Skeletal Radiology. 3rd ed. Philadelphia: Lippincott/Williams & Wilkins; 2005
- 16 Glass RBJ, Norton KI, Mitre SA, Kang E. Pediatric ribs: a spectrum of abnormalities. Radiographics 2002; 22 (01) 87-104
- 17 Oh CH, Lee CH, Kim SY, Lee S-Y, Jun HH, Lee S. A family of Melnick-Needles syndrome: a case report. BMC Pediatr 2020; 20 (01) 1-6
- 18 Kaissi AA, van Egmond-Fröhlich A, Ryabykh S. et al. Spine malformation complex in 3 diverse syndromic entities: case reports. Medicine (Baltimore) 2016; 95 (50) e5505
- 19 Themes UFO. Spondyloepiphyseal Dysplasia Congenita. 2020 [cited 20 Dec 2020]. Accessed November 29, 2022 at: https://radiologykey.com/spondyloepiphyseal-dysplasia-congenita/
- 20 Lakhkar BN, Raphael R. Spondyloepiphyseal dysplasia: an evaluation of six cases. Indian J Radiol Imaging 2003; 13: 199-202
- 21 Morthy NL, Venkataratnam I, Rao RP, Rani MS. Images: Chondro- dysplasia punctata. Indian J Radiol Imaging 2002; 12 (03) 397-398
- 22 Duarte ML, Duarte ÉR, Solorzano DB, Solorzano EB, Ferreira Jde A. Spondylometaphyseal dysplasia: an uncommon disease. Radiol Bras 2017; 50 (01) 63-63
- 23 Aviezer D, Golembo M, Yayon A. Fibroblast growth factor receptor-3 as a therapeutic target for achondroplasia—genetic short limbed dwarfism. Curr Drug Targets 2003; 4 (05) 353-365
- 24 Sargar KM, Singh AK, Kao SC. Imaging of skeletal disorders caused by fibroblast growth factor receptor gene mutations. Radiographics 2017; 37 (06) 1813-1830
- 25 Pediatrics - Orthobullets Metaphyseal Chondrodysplasia - Pediatrics - Orthobullets. 2020 [cited 2020 Nov 28]. Accessed November 29, 2022 at: https://www.orthobullets.com/pediatrics/4099/metaphyseal-chondrodysplasia
- 26 Yadav P, Narula M. Dysplasia epiphysealis multiplex. Indian J Radiol Imaging 2000; 10: 267-268
- 27 Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R. Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A 2007; 143A (21) 2512-2522
- 28 Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A. Diastrophic dysplasia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K. et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993. [cited 2020 Dec 20].
- 29 Patil PP, Barpande SR, Bhavthankar JD, Humbe JG. Cleidocranial dysplasia: a clinico-radiographic spectrum with differential diagnosis. J Orthop Case Rep 2015; 5 (02) 21-24
- 30 Al-Salmi I, Raniga S, Hadidi AA. Fibrodysplasia ossificans progressiva—radiological findings: a case report. Oman Med J 2014; 29 (05) 368-370
- 31 Hwang Z-A, Suh KJ, Chen D, Chan WP, Wu JS. Imaging features of soft-tissue calcifications and related diseases: a systematic approach. Korean J Radiol 2018; 19 (06) 1147-1160
- 32 Hattapoğlu S, Durmaz MS. Radiological features of achondrogenesis type 1A: case report and review of the literature. Med J Obstet Gynecol 2018; 6 (01) 1115-1118
- 33 Renaud A, Aucourt J, Weill J. et al. Radiographic features of osteogenesis imperfecta. Insights Imaging 2013; 4 (04) 417-429
- 34 Gangadhar SR, Prakashchandra SP, Rupal P. Osteopetrosis with typical radiological findings. Rare case report. Int J Anatomy, Radiol Surg 2015; 4: 36-38
- 35 Ihde LL, Forrester DM, Gottsegen CJ. et al. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. Radiographics 2011; 31 (07) 1865-1882
- 36 Pawar SS, Bhorge V. Pyknodystosis. Indian J Radiol Imaging 2001; 11 (03) 151-151
- 37 Boulet C, Madani H, Lenchik L. et al. Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders. Br J Radiol 2016; 89 (1062): 20150349