A distinct autosomal dominant craniosynostosis-brachydactyly syndrome.
We report a family with an autosomal dominantly inherited craniosynostosis. Five affected individuals have been identified with a variable clinical picture of premature coronal sutural synostosis accompanied by a mild midfacial hypoplasia and hypertelorism, downslanting external palpebral fissures, beaking of the nose and brachydactyly. This pedigree appears to represent a distinct craniosynostosis entity.
Glass
I A
IA
Genetics Unit, Birmingham Maternity Hospital, UK.
Chapman
S
S
Hockley
A D
AD
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging