Thanatophoric dysplasia in identical twins.
Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.
Young
I D
ID
Department of Child Health, Leicester Royal Infirmary.
Patel
I
I
Lamont
A C
AC
D004200:Diseases in Twins; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D009666:Nose / Q000002:abnormalities / Q000000981:diagnostic imaging; D010009:Osteochondrodysplasias / Q000235:genetics*; D010331:Paternal Age; D013902:Radiography, Thoracic; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D013909:Thorax / Q000002:abnormalities; D014427:Twins; D014430:Twins, Monozygotic