Abstract
Skeletal dysplasia is one of the most challenging fields in paediatric orthopaedic practice. It requires a multidisciplinary approach and dedicated team with special interest in this subspecialty. The aim of this chapter is to help you understand the language around skeletal dysplasias and the common threads they present, whilst highlighting specific aspects of individual conditions.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A. 2015;167(12):2869–92.
Yang J, Cummings EA, O'Connell C, Jangaard K. Fetal and neonatal outcomes of diabetic pregnancies. Obstet Gynecol. 2006;108(3 Pt 1):644–50.
Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, et al. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 2009;34(2):160–70.
Milks KS, Hill LM, Hosseinzadeh K. Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. Pediatr Radiol. 2016;47(2):134–45.
Falardeau F, Camurri MV, Campeau PM. Genomic approaches to diagnose rare bone disorders. Bone. 2017;102:5–14.
Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1.
Ornitz DM, Legeai-Mallet L. Achondroplasia: development, pathogenesis, and therapy. Dev Dyn. 2017;246(4):291–309.
Calder AD, Foley P. Skeletal dysplasias: an overview. Paediatr Child Health. 2018;28(2):84–92.
Berendsen AD, Olsen BR. Bone development. Bone. 2015;80:14–8.
Murray LW, Bautista J, James PL, Rimoin DL, Type II. Collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am J Hum Genet. 1989;45(1):5–15.
Parikh SN. Spondyloepiphyseal-dysplasia-congenital 2015 [cited 2020. Available from: https://rarediseases.org/rare-diseases/spondyloepiphyseal-dysplasia-congenital/.
Sillence DO. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci. 1988;543:1–15.
Greeley CS, Donaruma-Kwoh M, Vettimattam M, Lobo C, Williard C, Mazur L. Fractures at diagnosis in infants and children with osteogenesis imperfecta. J Pediatr Orthop. 2013;33(1):32–6.
Marini JC. Osteogenesis imperfecta: comprehensive management. Adv Pediatr Infect Dis. 1988;35:391–426.
Semler O, Cheung MS, Glorieux FH, Rauch F. Wormian bones in osteogenesis imperfecta: correlation to clinical findings and genotype. Am J Med Genet A. 2010;152a(7):1681–7.
Biggin A, Munns CF. Long-term bisphosphonate therapy in Osteogenesis Imperfecta. Curr Osteoporos Rep. 2017;15(5):412–8.
Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, et al. Diagnosis and Management of Osteopetrosis: consensus guidelines from the Osteopetrosis working group. J Clin Endocrinol Metabol. 2017;102(9):3111–23.
Ridanpaa M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell. 2001;104(2):195–203.
Herring JA. Tachdjians. Pediatric Orthopaedics. Philadelphia: Saunders Elsevier; 2013.
Alshryda S, Jones S, Banaszkiewicz P. Postgraduate Paediatric Orthopaedics: the Candidate’s guide to the FRCS (Tr and Orth) examination. Cambridge: Cambridge University Press; 2014.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2021 The Author(s), under exclusive license to Springer Nature Switzerland AG
About this chapter
Cite this chapter
Shahid, S., Eastwood, D.M. (2021). Musculoskeletal Dysplasias. In: Alshryda, S., Jackson, L., Thalange, N., AlHammadi, A. (eds) Pediatric Orthopedics for Primary Healthcare. Springer, Cham. https://doi.org/10.1007/978-3-030-65214-2_10
Download citation
DOI: https://doi.org/10.1007/978-3-030-65214-2_10
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-65213-5
Online ISBN: 978-3-030-65214-2
eBook Packages: MedicineMedicine (R0)