A Polish variant of isolated dentinogenesis imperfecta with a generalised connective tissue defect.
A case is described of four generations of a Polish family with characteristic features of dentinogenesis imperfecta, who also presented with a variety of generalised connective tissue features, suggestive of a structural gene mutation causing abnormalities in connective tissues other than dentine.
Komorowska
A
A
Rozynkowa
D
D
Lee
K W
KW
Renouf
D V
DV
Nicholls
A C
AC
MacKenzie
J
J
Pope
F M
FM
D000328:Adult; D002648:Child; D003240:Connective Tissue Diseases / Q000235:genetics* / Q000473:pathology; D003811:Dentinogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011044:Poland