How to cite this article: Sonnesen L, Nolting D, Engel U, Kjær I. 2009. Cervical vertebrae, cranial base, and mandibular retrognathia in human triploid fetuses. Am J Med Genet Part A 149A:177–187.
Cervical vertebrae, cranial base, and mandibular retrognathia in human triploid fetuses†
Article first published online: 22 JAN 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 2, pages 177–187, February 2009
How to Cite
Sonnesen, L., Nolting, D., Engel, U. and Kjær, I. (2009), Cervical vertebrae, cranial base, and mandibular retrognathia in human triploid fetuses. Am. J. Med. Genet., 149A: 177–187. doi: 10.1002/ajmg.a.32631
- Issue published online: 22 JAN 2009
- Article first published online: 22 JAN 2009
- Manuscript Accepted: 15 OCT 2008
- Manuscript Received: 10 JAN 2008
- cranial base;
On profile radiographs of adults, an association between fusions of cervical vertebrae, deviations in the cranial base and mandibular retrognathia has been documented radiographically. An elaboration of this association on a histological level is needed. In human triploid fetuses severe mandibular retrognathia and deviations in the cranial base have previously been described radiographically (without cephalometry) and cervical column fusions radiographically as well as histologically. Therefore, triploid fetuses were chosen to elucidate the cranial base cephalomterically and histologically. In the present study, eight triploid fetuses were analyzed radiographically and histologically focusing especially on the cranial base, which borders to the spine and to which the jaws are attached. A histological analysis of the cranial base has not previously been performed in triploid cases. An enlarged cranial base angle and a retrognathic position of the mandible were documented cephalometrically on radiographs of all cases. Histologically, malformations were observed in the cranial base as well as in the spine. These are new findings indicating the association between the occipital bone and the uppermost vertebra in the body axis. As the notochord connects the cervical column and the cranial base in early prenatal life, molecular signaling from the notochord may in future studies support the notochord as the developmental link between abnormal development in the spine and the cranial base. © 2009 Wiley-Liss, Inc.