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Abnormal Body Proportions and Dwarfism at Birth

  • Benjamin Joseph

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).

Keywords

Cleft Palate Intrauterine Growth Retardation Skeletal Dysplasia Body Proportion Placental Insufficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Bagley CA, Pindrik JA, Bookland MJ, et al. Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg. 2006;104:166–72.PubMedGoogle Scholar
  2. 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.PubMedCrossRefGoogle Scholar
  3. 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.PubMedCrossRefGoogle Scholar
  4. Jones SM, Robinson LK, Sperrazza R. Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia. Am J Med Genet. 1990;36:404–7.PubMedCrossRefGoogle Scholar
  5. 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.PubMedCrossRefGoogle Scholar
  6. Kozlowski K, Campbell J, Anderson B, et al. Metatropic dysplasia and its variants (analysis of 14 cases). Australas Radiol. 1988;32:325–37.PubMedCrossRefGoogle Scholar
  7. 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.PubMedCrossRefGoogle Scholar
  8. Miyazaki O, Nishimura G, Sago H, et al. Prenatal diagnosis of fetal skeletal dysplasia with 3D CT. Pediatr Radiol. 2012;42:842–52.PubMedCrossRefGoogle Scholar
  9. Rimoin DL. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet. 1995;56:824–7.PubMedCentralPubMedGoogle Scholar
  10. 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.PubMedCrossRefGoogle Scholar
  11. Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr. 1994;153:56–65.PubMedGoogle Scholar
  12. 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.PubMedCrossRefGoogle Scholar
  13. 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.PubMedCrossRefGoogle Scholar
  14. 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.PubMedCentralPubMedCrossRefGoogle Scholar
  15. Wladimiroff JW, Niermeijer MF, Laar J, et al. Prenatal diagnosis of skeletal dysplasia by real-time ultrasound. Obstet Gynecol. 1984;63:360–4.PubMedGoogle Scholar

Copyright information

© Springer India 2015

Authors and Affiliations

  • Benjamin Joseph
    • 1
  1. 1.Aster MedcityKochiIndia

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