Title : The tomographic phenotype and the genotype of wormain bones
Abstract:
We describe patients who were recognized via conventional radiographs of the skull as manifesting wormian bones. Wormian bones are not a specific diagnostic entity and can be seen in variable forms of syndromic entities. Proper understanding is needed to elicit associated deficits.
Material and Methods: Nine children and three adults (of 10-15 years) were seen in our department. The principal complaints were, ligamentous hyperlaxity, delayed walking , fractures , nystagmus persistent headache and so forth. Via conventional radiographs, wormian bones have been recognized. We performed 3D reconstruction CT scan to further understand the precise etiology and the nature of these wormian bones and the connection with a broad spectrum of HIGH RISK clinical presentations. Our group of patients were consistent with the diagnosis of variable phenotypic and genotypic diagnosis of heritable bone disorders.
Results: 3D reconstruction CT scan showed that these worm- like appearances are in connection with pathological stretching of the cranial sutures. The latter phenomenon was strongly correlated to progressive softening of the sutures (mostly over the lambdoids). Basilar impression/invagination was the mainstay pathology elicited in this group of patients.
Conclusion: We conclude that the term Wormian can signify the etiology understanding in patients with heritable bone disorders. What we encountered via the 3D reconstruction CT scan in our group of patients totally refutes the common conception of wormian boes as has been published in the literature. Apparently, the worm- like phenomenon is in fact occurring because of overstretching of the soft cranial bones. This softening adversely changes the anatomical and the physiological contour of the skull and gives a dreadful chance to the odontoid to bulge into the brain stem leads to the development of morbid/mortal basilar impression/invagination. Scrutinizing the craniocervical junction is the first and of foremost importance in patients with wormian bones regardless the aetiological backgrounds.
