Anatomy and Cell Biology

Korean Association of Anatomists (대한해부학회)
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Complete transverse basilar cleft associated with hemifacial microsomia

  • Laphatrada Yurasakpong (Department of Anatomy, Faculty of Science, Mahidol University) ;
  • Athikhun Suwannakhan (Department of Anatomy, Faculty of Science, Mahidol University) ;
  • Joe Iwanaga (Department of Neurosurgery, Tulane Center for Clinical Neurosciences, Tulane University School of Medicine) ;
  • R. Shane Tubbs (Department of Neurosurgery, Tulane Center for Clinical Neurosciences, Tulane University School of Medicine) ;
  • Arada Chaiyamoon (Department of Anatomy, Faculty of Medicine, Khon Kaen University) ;
  • Nutmethee Kruepunga (Department of Anatomy, Faculty of Medicine, Kasetsart University) ;
  • Somluk Asuvapongpatana (Department of Anatomy, Faculty of Science, Mahidol University) ;
  • Thanwa Sudsang (Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine Ramathibodi Hospital, Mahidol University)
  • Received : 2023.12.06
  • Accepted : 2024.02.01
  • Published : 2024.09.30
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Abstract

Transverse basilar cleft (TBC) is an extremely rare variation of the clivus or the basilar part of the occipital bone. In this report, a unilateral transverse basilar fissure was found at the clivus in a head computed tomography of an 18-yearold female patient diagnosed with hemifacial microsomia (HFM). Image analysis of this patient showed shortening of the ramus of the right mandible along with medial displacement of the right temporomandibular joint and hypoplastic right maxilla. In addition, observation of the clivus showed a cleft between the basioticum and basioccipital bones at the level of the pharyngeal tubercle on the right side. This cleft was identified as TBC. Clival variations, TBC included, attributed to HFM have never been reported. This report draws attention to the complex relationship between abnormal development of clivus and HFM syndrome, and sheds light on a possible genetic and molecular association between these two conditions.

Keywords

Acknowledgement

This study was supported by the Faculty of Science, Mahidol University.

References

  1. Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial microsomia). Orthod Craniofac Res 2007;10:121-8.
  2. Murray JE, Kaban LB, Mulliken JB. Analysis and treatment of hemifacial microsomia. Plast Reconstr Surg 1984;74:186-99.
  3. Jinkins JR. Atlas of neuroradiologic embryology, anatomy, and variants. Lippincott Williams & Wilkins; 2000.
  4. List CF. Neurologic syndromes accompanying developmental anomalies of occipital bone, atlas and axis. Arch Neurol Psychiatry 1941;45:577-616.
  5. Barth J. Norronaskaller: crania antiqua in parte orientali Norvegiae meridionalis inventa: en studie fra universitetets anatomiske institut. A.W. Broggers bogtrykkeri; 1896.
  6. Mahdi ES, Whitehead MT. Clival malformations in CHARGE syndrome. AJNR Am J Neuroradiol 2018;39:1153-6.
  7. Whitehead MT, Nagaraj UD, Pearl PL. Neuroimaging features of Cornelia de Lange syndrome. Pediatr Radiol 2015;45:1198-205.
  8. Tur SS, Svyatko SV, Rykun MP. Transverse basilar cleft: two more probable familial cases in an archaeological context. Int J Osteoarchaeol 2019;29:144-8.
  9. Kohler A, Zimmer EA, Schmidt H. Grenzen des normalen und anfange des pathologischen im rontgenbild des skeletts. Thieme; 1989.
  10. Lang J. Skull base and related structures: atlas of clinical anatomy. Schattauer; 1995.
  11. Hofmann E, Prescher A. The clivus: anatomy, normal variants and imaging pathology. Clin Neuroradiol 2012;22:123-39.
  12. Psenner L. Die anatomischen varianten des hirnschadels. Rofo 1951;75:197-214.
  13. Taiwo AO. Classification and management of hemifacial microsomia: a literature review. Ann Ib Postgrad Med 2020;18:S9-15.
  14. Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol 1994;14:163-76.
  15. Lou Y, Javed A, Hussain S, Colby J, Frederick D, Pratap J, Xie R, Gaur T, van Wijnen AJ, Jones SN, Stein GS, Lian JB, Stein JL. A Runx2 threshold for the cleidocranial dysplasia phenotype. Hum Mol Genet 2009;18:556-68.