A diagnostic clinical genetic study of craniofacial dysmorphism

Abstract

A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 patients [8 females, 17 males], age range 2 months to 47 years. Complete genetic examination, pedigree analysis, anthropometric measurements and radiological studies were carried out. Cytogenetic studies included fluorescence in situ hybridization [FISH]when indicated. In all, 15 patients had chromosomal abnormalities. Five patients had unbalanced chromosome rearrangements and six had chromosome markers. Three patients were FISH-positive for William syndrome and one was positive for Prader-Willi syndrome. Ten patients had monogenic disorders. Five were diagnosed as craniosynostosis syndromes. We conclude that minor features are useful for making a diagnosis of congenital anomalies