ABSTRACT
A number of congenital and acquired conditions can affect the skull, face and jaws in a wide range of craniofacial abnormalities that commonly present at birth or in early in infancy. The aim of the present study was to evaluate clinically as well as cytogenetically a non-selected group of Egyptian children with craniofacial dysmorphism whether isolated or part of the syndrome. The study included 30 patients from 28 families. Consanguinity was present in 42.8% of families and a similar affected family member was present in 6 patients [20%]. Cytogenetic analysis using high resolution karyotype was done to 24 patients. Patients were classified according to the aetiology of dysmorphism into five groups. Group 1 included patients with chromosomal abnormalities [two patients [6.7%]] and one patient with microdeletion syndrome [Rubenstein Taybi syndrome [3.3%]] which needs FISH and molecular testing for confirmation. Craniofacial dysmorphism due to monogenic disorders was present in 34.3%, multifactorial aetiology in 20%, environmental factors in 6.7%, and unknown aetiology in 20% of cases. In conclusion, the aetiology of craniofacial dysmorphism is very heterogeneous. Good observation and systematic examination can narrow the differential diagnosis and the laboratory investigations needed. High resolution karyotype is essential in all of these cases