Abstract:
Instant clinical recognition of abnormal craniofacial contour can facilitate the diagnostic process and enhance proper management. Overlooking minor or major anatomical disruptions of the craniofacial bones can lead to endless sophisticated unnecessary and time consuming investigations. There is almost always a strong correlation between deformities of the craniofacial contour with abnormalities of the skeletal system and the visceral organs. We categorized our patients into several subcategories in accordance with the etiological diagnosis. In this presentation we choose two groups of children born with abnormal craniofacial contour. The first group are infants born with pre and postnatal growth acceleration.
The second group are infants and children with pre and postnatal growth retardation. The former group encompasses children with cerebral gigantism (Sotos syndrome) (which combines early overgrowth with a characteristic facial appearance with variable clinical manifestations), and children with Marfanoid habitus with craniosynostosis. The latter group included children and adults with sclerosing bone disorders. Family study of each child showed the existence of variable forms of mild/moderate clinical abnormalities in parents, siblings and relatives regardless of the patterns of inheritance. The purpose of this study is threefold, firstly; craniofacial asymmetry or plagiocephaly are not a diagnostic entity; these are almost always a symptom complex which warrants clinical search to detect hidden abnormalities. Secondly; radiographic interpretation is a fundamental tool to explore the concomitant deformities. Thirdly, observing the clinical phenotype of the parents, siblings and in some cases the relatives can give a clue for the diagnosis.
