Skip to main content

Advertisement

SpringerLink
Log in

An osteological assessment of cyclopia by micro-CT scanning

  • Original Article
  • Published:
Surgical and Radiologic Anatomy Aims and scope Submit manuscript

Abstract

Purpose

Imaging modalities such as micro-CT scanning and three-dimensional reconstruction are providing a mechanism for detailed analysis of skeletal components not only of normal specimens but also through revisitation of the abnormal. The aim of this study was to analyse the craniofacial skeleton of five human fetuses with cyclopia by means of micro-CT scanning and three-dimensional reconstruction.

Materials and methods

The study consisted of five cyclopean individuals from the paediatric collection of the School of Anatomical Sciences, University of the Witwatersrand. The specimens ranged in age from 22 to 42 weeks of gestation. The osteological features of each bone of the skull were analysed with the aid of micro-CT scanning and analysis using VG studiomax software.

Results

A detailed analysis of all the bones of the skull revealed that the upper two-thirds of the viscerocranium and the anterior region of the basicranium were the most affected regions of the cyclopean fetuses. The ethmoid, nasal, inferior concha and the lacrimal bones were absent in all the cases of cyclopia. Major abnormalities were found in the premaxillary region which affected the development of the anterior dentition.

Conclusion

This study supports the suggestion that the malformations of the visceral bones are secondary to defective development of the presphenoid and mesethmoid cartilages. The ethmoidal bones are important midline struts during normal development and their absence in cyclopia leads to non-laterality of facial features.

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7
Fig. 8

Similar content being viewed by others

References

  1. Arnold WH, Meiselbach V (2009) 3-D reconstruction of a human fetus with combined holoprosencephaly and cyclopia. Head Neck Med 5:14. https://doi.org/10.1186/1746-160X-5-14

    Article  Google Scholar 

  2. Barteczko K, Jacob M (1999) Comparative study of shape, course, and disintegration of the rostral notochord in some vertebrates, especially humans. Anat Embryol 200:345–366

    Article  CAS  Google Scholar 

  3. Barteczko K, Jacob M (2004) A re-evaluation of the premaxillary bone in humans. Anat Embryol 207:417–437. https://doi.org/10.1007/s00429-003-0366-x

    Article  CAS  Google Scholar 

  4. Beachy PA, Cooper MK, Young KE, von Kessler DP, Park W-J, Tanaka Hall TM, Leahy DJ, Porter JA (1997) Multiple roles of cholesterol in hedgehog protein biogenesis and signaling. Cold Spring Harb Symp Quant Biol 62:191–204

    Article  CAS  PubMed  Google Scholar 

  5. Belden C, Mancuso A, Kotzur I (1997) The developing anterior skull base: CT appearance from birth to 2 years of age. AJNR Am J Neuroradiol 18:811–818

    CAS  PubMed  PubMed Central  Google Scholar 

  6. Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-keller H, Helms C, Hing AV, Heng HHQ, Koop B, Martindale D, Rommens JM, Tsui L-C, Scherer SW (1996) Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 14:353–356

    Article  CAS  PubMed  Google Scholar 

  7. Cannistrá C, Barbet P, Parisi P, Ianetti G (2001) Cyclopia: a radiological and anatomical post mortem study. J Craniomaxillofac Surg 29:150–155

    Article  PubMed  Google Scholar 

  8. Cohen MM Jr, Shiota K (2002) Teratogenesis of holoprosencephaly. Am J Med Genet 109:1–15

    Article  PubMed  Google Scholar 

  9. Cooper MK, Porter JA, Young KE, Beachy PA (1998) Teratogen-mediated inhibition of target tissue response to Shh signaling. Science 280:1603–1607

    Article  CAS  PubMed  Google Scholar 

  10. Gardner DG, Lim H (1971) The oral manifestations of cyclopia. Oral Surg 32:910–917

    Article  CAS  PubMed  Google Scholar 

  11. Jin O, Harpal K, Ang SL, Rossant J (2001) Otx2 and HNF3beta genetically interact in anterior patterning. Int J Dev Biol 45:357–365

    CAS  PubMed  Google Scholar 

  12. Kjaer I, Keeling JW, Graem N (1991) The midline craniofacial skeleton in holoprosencephalic fetuses. J Med Genet 28:846–855

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Kokich VG, Moffett BC, Cohen MM (1982) The cloverleaf skull anomaly: an anatomic and histologic study of two specimens. Cleft Palate J 19:89–99

    CAS  PubMed  Google Scholar 

  14. Lemire RJ, Cohen MM Jr, Beckwith JB, Kokich VG, Siebert JR (1981) The facial features of holoprosencephaly in anencephalic human specimens. I. Historical review and associated malformations. Teratology 23:297–303

    Article  CAS  PubMed  Google Scholar 

  15. Liu DPC, Burrowes DM, Qureshi MN (1997) Cyclopia: craniofacial appearance on MR and three-dimensional CT. Am J Neuroradiol 18:543–546

    CAS  PubMed  PubMed Central  Google Scholar 

  16. Măluţan AM, Dudea M, Ciortea R, Mureşan M, Bucuri CE, Mihu C, Mihu D (2017) Cyclopia and proboscis–the extreme end of holoprosencephaly. Rom J Morphol Embryol 58:1555–1559

    PubMed  Google Scholar 

  17. McBratney-Owen B, Iseki S, Bamforth SD, Olsen BR, Morriss-Kay GM (2008) Development and tissue origins of the mammalian cranial base. Dev Biol 322:121–132

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. McGrath P, Sperber GH (1990) Floor of the median orbit. J Anat 169:125–138

    CAS  PubMed  PubMed Central  Google Scholar 

  19. Müller F, O’Rahilly R (1989) Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain. Am J Anat 185:391–414

    Article  PubMed  Google Scholar 

  20. Neligan P (2013) Plastic Surgery, 3rd edn. Elsevier Saunders, London

    Google Scholar 

  21. Nemzek WR, Brodie HA, Hecht ST, Chong BW, Babcook CJ, Seibert JA (2000) MR, CT, and plain film imaging of the developing skull base in fetal specimens. Am J Neuroradiol 21:1699–1706

    CAS  PubMed  PubMed Central  Google Scholar 

  22. Park HS, Lee YJ, Jeong SH, Kwon TG (2008) Density of the alveolar and basal bones of the maxilla and the mandible. Am J Orthod Dentofacial Orthop 133:30–37

    Article  PubMed  Google Scholar 

  23. Sedano H, Gorlin R (1963) The oral manifestations of cyclopia: review of the literature and report on two cases. Oral Surg 16:823–838

    Article  CAS  PubMed  Google Scholar 

  24. Shiota K, Yamada S, Komada M, Ishibashi M (2007) Embryogenesis of holoprosencephaly. Am J Med Genet Part A 143:3079–3087

    Article  Google Scholar 

  25. Situ D, Reifel CW, Smith R, Lyons GW, Temkin R, Harper-Little C, Pang SC (2002) Investigation of a cyclopic, human, term fetus by use of magnetic resonance imaging (MRI). J Anat 200:431–438

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  26. Sperber GH, Sperber SM (2018) Craniofacial embryogenetics and development, 3rd edn. People’s Medical Publishing House, Raleigh

    Google Scholar 

  27. Swatek J, Szumilo J, Burdan F (2013) Alobar holoprosencephaly with cyclopia–autopsy-based observations from one medical center. Reprod Toxicol 41:80–85

    Article  CAS  PubMed  Google Scholar 

  28. Varga Z, Wegner J, Westerfield M (1999) Anterior movement of ventral diencephalic precursors separates the primordial eye field in the neural plate and requires cyclops. Development 126:5533–5546

    CAS  PubMed  Google Scholar 

Download references

Acknowledgements

Mr. Jakobus Hoffmann and Mr. Lunga Bham of the MIXRAD facility of the Nuclear Energy Corporation of South Africa (NECSA) are acknowledged for their technical assistance in micro-CT scanning. The authors wish to thank Mr. Brendon Billings and members of the School of Anatomical Sciences Collections Committee for granting access to the Paediatric Collection.

Author information

Authors and Affiliations

  1. School of Anatomical Sciences, Medical School, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

    Beverley Kramer, Kgalaletso Molema & Erin F. Hutchinson

Authors
  1. Beverley Kramer
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kgalaletso Molema
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Erin F. Hutchinson
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

BK: project development, data analysis and manuscript writing. KM: data collection and data analysis. EFH: project development, data analysis and manuscript editing.

Corresponding author

Correspondence to Beverley Kramer.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kramer, B., Molema, K. & Hutchinson, E.F. An osteological assessment of cyclopia by micro-CT scanning. Surg Radiol Anat 41, 1053–1063 (2019). https://doi.org/10.1007/s00276-019-02284-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00276-019-02284-x

Keywords

Search

Navigation