Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance.
We report on a girl with Nager acrofacial dysostosis, three of whose relatives had variable mild anomalies of the thumb. The possible relationship of such minor features to the radial limb anomalies in the proposita provides further evidence that the Nager syndrome can be the manifestation of a dominantly inherited disorder with very variable expressivity.
Edinburgh University, Human Genetics Unit, Western General Hospital, UK.
D T
DT
Bonthron
D F
DF
Macgregor
D G
DG
Barr
D000328:Adult; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013580:Synostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging