Craniofacial morphology in the velo-cardio-facial syndrome.
The velo -cardio-facial syndrome is a recently delineated congenital malformation syndrome, probably of autosomal dominant inheritance. Previous reports have concentrated on facial, oropharyngeal, cardiac, speech, language, and psychological features of this fairly common syndrome. To date, no radiographic data have been presented which might help to further delineate the syndrome, nor has there been an explanation of the characteristic facial appearance seen in this syndrome. This current study reports on cephalometric evidence of platybasia (obtuse angulation of the cranial base) in the velo -cardio-facial syndrome. The finding of platybasia adds one more phenotypic feature to the syndrome and also may help to explain the facial features of retrognathia, malar flatness, and prominence of the nasal root.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology*; D005145:Face / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D008297:Male; D012886:Skull / Q000002:abnormalities / Q000473:pathology; D013577:Syndrome; D013701:Temporal Bone / Q000002:abnormalities