Congenital Craniofacial Bone Defects and Facial Clefts: Imaging, Morphology, and Developmental Insights from Museum Specimens

Dear Colleagues,

We are pleased to invite you to contribute an article to a Special Issue of Biology-Basel on ‘Congenital Craniofacial Bone Defects and Facial Clefts: Imaging, Morphology, and Developmental Insights from Museum Specimens’.     

Pathological–anatomical museums, and often Institutes of Pathology, contain collections displaying a large number of specimens with congenital malformations. Some of these malformations are so severe that they would not be seen today given the advances in prenatal diagnosis. These collections are therefore an invaluable resource for scientific research.

We chose craniofacial malformations as the topic for this Special Issue because they are prevalent among the museum’s specimens, occurring in varying degrees of severity. They also enable us to use new, high-resolution imaging techniques that would not be feasible for living individuals. This enables us to detect and visualize accompanying anomalies in the underlying bone and soft tissue structures with greater accuracy. Little is known about the extent of variation, even within single phenotypes.

Facial malformations are often part of a genetic syndrome. Due to long-term fixation with formalin, it is no longer possible to confirm a syndrome diagnosis through molecular analysis. We have to rely on our clinical syndrome diagnosis with the help of additional targeted examinations, such as by probing, tissue biopsies, and radiological examinations. This is important for understanding the genetic background of the syndrome and allows conclusions to be drawn about the responsible pathomechanisms of craniofacial developmental disorders.

The aim of this Special Issue is to broaden our understanding of the morphology, aetiology, and pathogenesis of craniofacial bone defects, as well as their associated physical limitations and clinical consequences. The findings are clinically relevant in terms of their incorporation into genetic counselling for affected families, as well as in the development of further therapeutic and surgical corrective measures.

In this Special Issue, original research articles and reviews are welcome. Research areas should focus on congenital craniofacial malformations and their relationship to underlying bone defects, as, for example, evidenced through museum specimens. They may include (but are not limited to) facial clefts, the agnathia-otocephaly complex, craniofacial midline defects associated with encephaloceles or holoprosencephaly, hemifacial microsomia, and skull deformities and gaps resulting from craniosynostosis. The issue will also include reports on new, high-resolution imaging techniques that provide new insights into the underlying craniofacial structures, such as micro-CT analysis, as well as Review Articles on the current state of knowledge regarding the clinical presentation and genetics of craniofacial malformations, including the common cleft lip and palate, and the status of therapeutic and surgical corrective measures.

We look forward to receiving your contributions.

Prof. Dr. Helga Rehder
Dr. Stefan Tangl
Guest Editors

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