Skip to main content

Advertisement

Log in

A guide to the recognition of skeletal disorders in the fetus

  • Review
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

The discovery of fetal skeletal abnormality on prenatal US mandates an extended study of the fetus. This extended examination includes specific views and measurements of the fetal skeleton. Lethality can be predicted if severe pulmonary hypoplasia is present. Specific diagnosis of a fetal osteochondrodysplasia is difficult; a collaborative approach among obstetric, neonatal and genetic services is necessary to provide the parents with all available information regarding the pregnancy. Pediatric radiologists who have experience in radiologic assessment of osteochondrodystrophies of infants and children can provide expertise in this area.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Teele RL, Barth RA, Estroff J (2000) Perinatal radiology. Pediatr Radiol 30:1–2

    Article  PubMed  CAS  Google Scholar 

  2. Lachman RS (1994) Fetal imaging in the skeletal dysplasias: overview and experience. Pediatr Radiol 42:413–417

    Article  Google Scholar 

  3. Avni EF, Rypens F, Zappa M, et al (1996) Antenatal diagnosis of short-limb dwarfism: sonographic approach. Pediatr Radiol 26:171–178

    Article  PubMed  CAS  Google Scholar 

  4. Superti-Furga A, Bonafe L, Rimoin DL (2001) Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 106:282–293

    Article  PubMed  CAS  Google Scholar 

  5. http://zygote.swarthmore.edu/cell6.html

  6. Alberts B, Bray D, Lewis J, et al (1994) Molecular biology of the cell, 3rd edn. Garland Publishing, New York, NY, pp 978–981

    Google Scholar 

  7. Rauch F, Glorieux FH (2004) Osteogenesis imperfecta. Lancet 363:1377–1385

    Article  PubMed  CAS  Google Scholar 

  8. Kolble N, Sobetzko D, Ersch J, et al (2002) Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia. Ultrasound Obstet Gynecol 19:92–98

    Article  PubMed  CAS  Google Scholar 

  9. Hall CM (2002) International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 15(113):65–77 (PDF revised 2003 available from http://www.csmc.edu/3810.html)

  10. Offiah AC, Hall CM (2003) Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C? Pediatr Radiol 33:153–161

    Article  PubMed  Google Scholar 

  11. Rasmussen SA, Bieber FR, Benacerraf BR, et al (1996) Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 61:49–58

    Article  PubMed  CAS  Google Scholar 

  12. Sharony R, Browne C, Lachman RS, et al (1993) Prenatal diagnosis of the skeletal dysplasias. Am J Obstet Gynecol 169:668–675

    PubMed  CAS  Google Scholar 

  13. Tretter AE, Saunders RC, Meyers CM, et al (1998) Antenatal diagnosis of lethal skeletal dysplasias. Am J Med Genet 75:518–522

    Article  PubMed  CAS  Google Scholar 

  14. Parilla BV, Leeth EA, Kambich MP, et al (2003) Antenatal detection of skeletal dysplasias. J Ultrasound Med 22:255–258

    PubMed  Google Scholar 

  15. Merz E, Miric-Tesanic D, Bahlmann F, et al (1999) Prenatal sonographic chest and lung measurements for predicting severe pulmonary hypoplasia. Prenat Diagn 19:614–619

    Article  PubMed  CAS  Google Scholar 

  16. Dugoff L, Coffin CT, Hobbins JC (1997) Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 10:269–271

    Article  PubMed  CAS  Google Scholar 

  17. Schumacher R, Seaver LH, Spranger J (2004) Fetal radiology: a diagnostic atlas. Springer, Berlin Heidelberg New York

    Google Scholar 

  18. Griffiths PD, Paley MN, Whitby EH (2005) Post-mortem MRI as an adjunct to fetal or neonatal autopsy. Lancet 365:1271–1273

    Article  PubMed  CAS  Google Scholar 

  19. Suzumura H, Kohno T, Nishimura G, et al (2002) Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report. Pediatr Radiol 32:373–375

    Article  PubMed  Google Scholar 

  20. Souka AP, Von Kaisenberg CS, Hyett JA, et al (2005) Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 192:1005–1021

    Article  PubMed  Google Scholar 

  21. Haak MC, van Vugt JM (2003) Pathophysiology of increased nuchal translucency: a review of the literature. Hum Reprod Update 9:175–184

    Article  PubMed  Google Scholar 

  22. Michel-Calemard L, Lesca G, Morel Y, et al (2004) Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester. Prenat Diagn 24:519–523

    Article  PubMed  Google Scholar 

  23. http://www.aium.org

  24. http://www.asum.com.au

  25. Campbell J, Henderson A, Campbell S (1988) The fetal femur/foot length ratio: a new parameter to assess dysplastic limb reduction. Obstet Gynecol 72:181–184

    PubMed  CAS  Google Scholar 

  26. Brons JT, van der Harten HJ, van Geijn HP, et al (1990) Prenatal ultrasonographic diagnosis of radial-ray reduction malformations. Prenat Diagn 10:279–288

    Article  PubMed  CAS  Google Scholar 

  27. Schmeling A, Schulz R, Reisinger W, et al (2004) Studies on the time frame for ossification of the medial clavicular epiphyseal cartilage in conventional radiography. Int J Legal Med 118:5–8

    Article  PubMed  Google Scholar 

  28. Yarkoni S, Schmidt W, Jeanty P, et al (1985) Clavicular measurement: a new biometric parameter for fetal evaluation. J Ultrasound Med 4:467–470

    PubMed  CAS  Google Scholar 

  29. Mortier GR, Rimoin DL, Lachman RS (1997) The scapula as a window to the diagnosis of skeletal dysplasias. Pediatr Radiol 27:447–451

    Article  PubMed  CAS  Google Scholar 

  30. Chinn DH (2001) Prenatal ultrasonographic diagnosis of Sprengel’s deformity. J Ultrasound Med 20:693–697

    PubMed  CAS  Google Scholar 

  31. Abuhamad AZ, Sedule-Murphy SJ, Kolm P, et al (1996) Prenatal ultrasonographic fetal rib length measurement: correlation with gestational age. Ultrasound Obstet Gynecol 7:193–196

    Article  PubMed  CAS  Google Scholar 

  32. Viora E, Sciarrone A, Bastonero S, et al (2002) Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report. Ultrasound Obstet Gynecol 19:88–91

    Article  PubMed  CAS  Google Scholar 

  33. Johnson A, Callan NA, Bhutani VK, et al (1987) Ultrasonic ratio of fetal thoracic to abdominal circumference: an association with fetal pulmonary hypoplasia. Am J Obstet Gynecol 57:764–769

    Google Scholar 

  34. Yoshimura S, Masuzaki H, Gotoh H, et al (1996) Ultrasonographic prediction of lethal pulmonary hypoplasia: comparison of eight different ultrasonographic parameters. Am J Obstet Gynecol 175:477–483

    Article  PubMed  CAS  Google Scholar 

  35. Corsi A, Riminucci M, Fisher LW, et al (2001) Achondrogenesis type 1B: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. Arch Pathol Lab Med 125:1375–1378

    PubMed  CAS  Google Scholar 

  36. Delgado Carrasco J, Casanova Morcillo A, Zabalza Alvillos M, et al (2001) Achondrogenesis type II-hypochondrogenesis: radiological features. Case report (in Spanish). An Esp Pediatr 55:553–557

    PubMed  CAS  Google Scholar 

  37. O’Sullivan MJ, McAllister WH, Ball RH, et al (1998) Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia. Pediatr Dev Pathol 1:405–412

    Article  PubMed  CAS  Google Scholar 

  38. Merz E, Welter C (2005) 2D and 3D ultrasound in the evaluation of normal and abnormal fetal anatomy in the second and third trimesters in a level III center. Ultraschall Med 26:9–16

    Article  PubMed  CAS  Google Scholar 

  39. Campbell S (2002) 4D or not 4D: that is the question. Ultrasound Obstet Gynecol 19:1–4

    Article  PubMed  Google Scholar 

  40. Pretorius DH, Nelson TR (1994) Prenatal visualization of cranial sutures and fontanelles with three-dimensional ultrasonography. J Ultrasound Med 13:871–876

    PubMed  CAS  Google Scholar 

  41. Pattarelli P, Pretorius DH, Edwards DK (1990) Intrauterine growth retardation mimicking skeletal dysplasia on antenatal sonography. J Ultrasound Med 9:737–739

    PubMed  CAS  Google Scholar 

  42. Poznanski AK (1994) Punctate epiphyses: a radiological sign not a disease. Pediatr Radiol 24:418–424

    Article  PubMed  CAS  Google Scholar 

  43. Schaefer-Graf UM, Buchanan TA, Xiang A, et al (2001) Patterns of congenital anomalies and relationship to initial maternal fasting glucose levels in pregnancies complicated by type 2 and gestational diabetes. Am J Obstet Gynecol 182:313–320

    Article  Google Scholar 

  44. Astley SJ, Clarren SK (1995) A fetal alcohol syndrome screening tool. Alcohol Clin Exp Res 19:1565–1571

    Article  PubMed  CAS  Google Scholar 

  45. Rouse B, Azen C, Koch R, et al (1997) Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae. Am J Med Genet 69:89–95

    Article  PubMed  CAS  Google Scholar 

  46. Lary JM, Daniel KL, Erickson JD, et al (1999) The return of thalidomide: can birth defects be prevented? Drug Saf 21:161–169

    Article  PubMed  CAS  Google Scholar 

  47. Garjian K, Pretorius DH, Budorick NE, et al (2000) Fetal skeletal dysplasia: three-dimensional US – initial experience. Radiology 214:717–723

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Rita L. Teele.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Teele, R.L. A guide to the recognition of skeletal disorders in the fetus. Pediatr Radiol 36, 473–484 (2006). https://doi.org/10.1007/s00247-005-0087-9

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-005-0087-9

Keywords

Navigation