Abstract
Dwarfism that is evident prenatally and in the newborn constitutes a small proportion of all the types of dwarfism that occur in children. Though the dwarfism per se is easily recognized on antenatal ultrasound scans, establishing a definitive diagnosis of the type of dwarfism is more difficult and needs the skills of an experienced radiologist. Despite this, the accuracy of prenatal diagnosis of dwarfism has improved in recent years; precise diagnoses have been reported with ultrasound (Wladimiroff et al. 1984; Trujillo-Tiebas et al. 2009; Jones et al. 1990) and CT scans (Miyazaki et al. 2012; Mace et al. 2013; Tamaru et al. 2009).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Bagley CA, Pindrik JA, Bookland MJ, et al. Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg. 2006;104:166–72.
Cui YX, Xia XY, Bu Y, et al. Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. Genet Test. 2008;12:533–6.
James PA, Shaw J, du Sart D, et al. Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. Prenat Diagn. 2003;23:861–3.
Jones SM, Robinson LK, Sperrazza R. Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia. Am J Med Genet. 1990;36:404–7.
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.
Kozlowski K, Campbell J, Anderson B, et al. Metatropic dysplasia and its variants (analysis of 14 cases). Australas Radiol. 1988;32:325–37.
Mace G, Sonigo P, Cormier-Daire V, et al. Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia. Ultrasound Obstet Gynecol. 2013;42:161–8.
Miyazaki O, Nishimura G, Sago H, et al. Prenatal diagnosis of fetal skeletal dysplasia with 3D CT. Pediatr Radiol. 2012;42:842–52.
Rimoin DL. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet. 1995;56:824–7.
Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001;17:159–71.
Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr. 1994;153:56–65.
Sulko J, Czarny-Ratajczak M, Wozniak A, et al. Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. Am J Med Genet A. 2005;137A:292–7.
Tamaru S, Kikuchi A, Takagi K, et al. Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomography. Prenat Diagn. 2009;29:1282–4.
Trujillo-Tiebas MJ, Fenollar-Cortes M, Lorda-Sanchez I, et al. Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene. J Assist Reprod Genet. 2009;26:455–60.
Wladimiroff JW, Niermeijer MF, Laar J, et al. Prenatal diagnosis of skeletal dysplasia by real-time ultrasound. Obstet Gynecol. 1984;63:360–4.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer India
About this chapter
Cite this chapter
Joseph, B. (2015). Abnormal Body Proportions and Dwarfism at Birth. In: Paediatric Orthopaedic Diagnosis. Springer, New Delhi. https://doi.org/10.1007/978-81-322-2392-4_16
Download citation
DOI: https://doi.org/10.1007/978-81-322-2392-4_16
Publisher Name: Springer, New Delhi
Print ISBN: 978-81-322-2391-7
Online ISBN: 978-81-322-2392-4
eBook Packages: MedicineMedicine (R0)