Vol. 5 (2021): International Journal of Case Reports
Case Reports

Seckel Syndrome & Skull Morphology: Quantifying Characteristics

Steven A. Lewis*, Stuart Inglis, PhD, Scott Doyle, PhD
Department of Pathology & Anatomical Sciences, University at Buffalo 955 Main St., Buffalo, NY 14203


  • Seckel Syndrome; Skull Morphology; Microcephaly; Computational Biology; CT; Morphometrics

How to Cite

Steven A. Lewis*, Stuart Inglis, PhD, Scott Doyle, PhD. (2021). Seckel Syndrome & Skull Morphology: Quantifying Characteristics. International Journal of Case Reports, 5, 202. https://doi.org/10.28933/ijcr-2021-02-1205


Seckel Syndrome is a rare genetic disorder which causes morphological changes throughout the body. Some of the most commonly reported changes are those present within the cranium and mandible such as microcephaly, a beak-like nose with convex nasal ridge, and mandibular deformities such as micrognathia. However, these clinical terms provide insufficient information to allow for proper diagnosis or to understand the distortions in physiology that take place with the disease. Therefore, quantification of the features of the skull are necessary to further explain this pathology, and comparisons to normal variation will help to understand the degree to which the anatomy is affected. Seckel Syndrome is classified as a member of the microcephaly family of pathologies; however, our results demonstrate that the overall volume of the skull is not as significantly decreased as the cranial vault itself, which may provide the catalyst for Chiari Type I malformations. The mandible, likewise, is severely altered by Seckel Syndrome decreases in approximately 44% of its volume and demonstrating altered physical proportions. Finally, the osteological measurements of the facial features demonstrated inconsistent findings between different anatomical structures providing evidence that Seckel Syndrome may have a variable effect on the different bones and tissues of the skull.


  1. n.d. 3D Slicer. Vers. 4.11.0. Brigham Women’s Hospital, Harvard University. Accessed January 17, 2019. https://download.slicer.org.
  2. DeCoster, PJ, RM Verbeeck, V Holthaus, LC Martens, and A Vral. 2005. “Seckel syndrome associated with oligodontia, microdontia, ena- mel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant?” Journal of Oral Pathology & Medicine 35 (10): 639-641.
  3. Fredorov, A, R Beichel, J Kalpathy-Cramer, J Finet, J-C Fillion-Robin, S Pujol, C Bauer, et al. 2012. “3D Slicer as an Image Computing Platform for the Quantitative Imaging Network.” Magnetic Resonance Imaging 30 (9): 1323-1341.
  4. Hopkins, Timothy E, and Stephen J Haines. 2003. Rapid development of Chiari I malfor- mation in an infant. Vol. 98. Journal of Neurosurgery.
  5. Joost, JM, Van Griethuysen, Andriy Federov, Chintan Parmar, Ahmed Hosny, Nicole Aucoin, Vivek Narayan, et al. 2017. Radiomics. Accessed January 22, 2019.
  6. a. http://www.radiomics.io/team.html.
  7. Kikinis, R, SD Pieper, and K Vosburgh. 2014. “3D Slicer: a platform for subject-specific image analysis, visualization, and clinical support.” Ed-
  8. ited by Ferenc A Jolesz. Intraoperative Imaging
  9. a. Image-Guided Therapy 3 (19): 277-289.
  10. Kjaer, Inger, N Hansen, KB Becktor, N Birkebaek, and T Balslev. 2001. “Craniofacial Morphology, Dentition, and Skeletal Maturity in Four Siblings with Seckel Syndrome.” Cleft Palate-Craniofacial Journal 38 (6): 645-651.
  11. Majewski, F, and T Goecke. 1982. “Studies of microcephalic primordial dwarfism I: approach to delineation of the Seckel syndrome.” American Journal of Medical Genetics 12 (1): 7-21.
  12. O’Driscoll, M, A R Grennery, J Seidel, P Concannon, and P A Jeggo. 2004. “An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.” DNA Repair 3: 1227-1235.
  13. O’Driscoll, Mark, Victor Ruiz-Perez, C. Geoffrey Woods, Penny A. Jeggo, and Judith A. Goodship. 2003. “A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.” (Nature Genetics) 33 (4).
  14. Regen, A, LP Nelson, and SB Woo. 2010. “Dental manifestations associated with Seckel syndrome type II: a case report.” Pediatric Dent. 34 (5): 445-450.
  15. 2015. Seckel syndrome. November 9. Accessed January 23, 2019. https://rarediseases.info.nih.gov/diseases/8562/seckel-syndrome.