Skip to main content
Top
Published in: Surgical and Radiologic Anatomy 9/2019

01-09-2019 | Original Article

An osteological assessment of cyclopia by micro-CT scanning

Authors: Beverley Kramer, Kgalaletso Molema, Erin F. Hutchinson

Published in: Surgical and Radiologic Anatomy | Issue 9/2019

Login to get access

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.
Literature
2.
go back to reference Barteczko K, Jacob M (1999) Comparative study of shape, course, and disintegration of the rostral notochord in some vertebrates, especially humans. Anat Embryol 200:345–366CrossRef Barteczko K, Jacob M (1999) Comparative study of shape, course, and disintegration of the rostral notochord in some vertebrates, especially humans. Anat Embryol 200:345–366CrossRef
4.
go back to reference 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 62:191–204CrossRefPubMed 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 62:191–204CrossRefPubMed
5.
go back to reference 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 18:811–818PubMedPubMedCentral 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 18:811–818PubMedPubMedCentral
6.
go back to reference 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 14:353–356CrossRefPubMed 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 14:353–356CrossRefPubMed
7.
go back to reference Cannistrá C, Barbet P, Parisi P, Ianetti G (2001) Cyclopia: a radiological and anatomical post mortem study. J Craniomaxillofac Surg 29:150–155CrossRefPubMed Cannistrá C, Barbet P, Parisi P, Ianetti G (2001) Cyclopia: a radiological and anatomical post mortem study. J Craniomaxillofac Surg 29:150–155CrossRefPubMed
8.
9.
go back to reference Cooper MK, Porter JA, Young KE, Beachy PA (1998) Teratogen-mediated inhibition of target tissue response to Shh signaling. Science 280:1603–1607CrossRefPubMed Cooper MK, Porter JA, Young KE, Beachy PA (1998) Teratogen-mediated inhibition of target tissue response to Shh signaling. Science 280:1603–1607CrossRefPubMed
11.
go back to reference Jin O, Harpal K, Ang SL, Rossant J (2001) Otx2 and HNF3beta genetically interact in anterior patterning. Int J Dev Biol 45:357–365PubMed Jin O, Harpal K, Ang SL, Rossant J (2001) Otx2 and HNF3beta genetically interact in anterior patterning. Int J Dev Biol 45:357–365PubMed
13.
go back to reference Kokich VG, Moffett BC, Cohen MM (1982) The cloverleaf skull anomaly: an anatomic and histologic study of two specimens. Cleft Palate J 19:89–99PubMed Kokich VG, Moffett BC, Cohen MM (1982) The cloverleaf skull anomaly: an anatomic and histologic study of two specimens. Cleft Palate J 19:89–99PubMed
14.
go back to reference 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 23:297–303CrossRefPubMed 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 23:297–303CrossRefPubMed
15.
go back to reference Liu DPC, Burrowes DM, Qureshi MN (1997) Cyclopia: craniofacial appearance on MR and three-dimensional CT. Am J Neuroradiol 18:543–546PubMedPubMedCentral Liu DPC, Burrowes DM, Qureshi MN (1997) Cyclopia: craniofacial appearance on MR and three-dimensional CT. Am J Neuroradiol 18:543–546PubMedPubMedCentral
16.
go back to reference 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 58:1555–1559PubMed 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 58:1555–1559PubMed
17.
go back to reference McBratney-Owen B, Iseki S, Bamforth SD, Olsen BR, Morriss-Kay GM (2008) Development and tissue origins of the mammalian cranial base. Dev Biol 322:121–132CrossRefPubMedPubMedCentral McBratney-Owen B, Iseki S, Bamforth SD, Olsen BR, Morriss-Kay GM (2008) Development and tissue origins of the mammalian cranial base. Dev Biol 322:121–132CrossRefPubMedPubMedCentral
19.
go back to reference 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 185:391–414CrossRefPubMed 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 185:391–414CrossRefPubMed
20.
go back to reference Neligan P (2013) Plastic Surgery, 3rd edn. Elsevier Saunders, London Neligan P (2013) Plastic Surgery, 3rd edn. Elsevier Saunders, London
21.
go back to reference 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 21:1699–1706PubMedPubMedCentral 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 21:1699–1706PubMedPubMedCentral
22.
go back to reference 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 133:30–37CrossRefPubMed 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 133:30–37CrossRefPubMed
23.
go back to reference Sedano H, Gorlin R (1963) The oral manifestations of cyclopia: review of the literature and report on two cases. Oral Surg 16:823–838CrossRefPubMed Sedano H, Gorlin R (1963) The oral manifestations of cyclopia: review of the literature and report on two cases. Oral Surg 16:823–838CrossRefPubMed
24.
go back to reference Shiota K, Yamada S, Komada M, Ishibashi M (2007) Embryogenesis of holoprosencephaly. Am J Med Genet Part A 143:3079–3087CrossRef Shiota K, Yamada S, Komada M, Ishibashi M (2007) Embryogenesis of holoprosencephaly. Am J Med Genet Part A 143:3079–3087CrossRef
25.
go back to reference 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 200:431–438CrossRefPubMedPubMedCentral 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 200:431–438CrossRefPubMedPubMedCentral
26.
go back to reference Sperber GH, Sperber SM (2018) Craniofacial embryogenetics and development, 3rd edn. People’s Medical Publishing House, Raleigh Sperber GH, Sperber SM (2018) Craniofacial embryogenetics and development, 3rd edn. People’s Medical Publishing House, Raleigh
27.
go back to reference Swatek J, Szumilo J, Burdan F (2013) Alobar holoprosencephaly with cyclopia–autopsy-based observations from one medical center. Reprod Toxicol 41:80–85CrossRefPubMed Swatek J, Szumilo J, Burdan F (2013) Alobar holoprosencephaly with cyclopia–autopsy-based observations from one medical center. Reprod Toxicol 41:80–85CrossRefPubMed
28.
go back to reference 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 126:5533–5546PubMed 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 126:5533–5546PubMed
Metadata
Title
An osteological assessment of cyclopia by micro-CT scanning
Authors
Beverley Kramer
Kgalaletso Molema
Erin F. Hutchinson
Publication date
01-09-2019
Publisher
Springer Paris
Published in
Surgical and Radiologic Anatomy / Issue 9/2019
Print ISSN: 0930-1038
Electronic ISSN: 1279-8517
DOI
https://doi.org/10.1007/s00276-019-02284-x

Other articles of this Issue 9/2019

Surgical and Radiologic Anatomy 9/2019 Go to the issue