Rothmund-Thomson syndrome: a case report.
We present a 4-year-old girl with poikiloderma, radial aplasia, short stature, facial dysmorphism, and sparse hair. We believe these findings to be consistent with a diagnosis of Rothmund-Thomson syndrome.
Roth
D E
DE
Department of Medicine, University of Louisville, Kentucky.
Campisano
L C
LC
Callen
J P
JP
Hersh
J H
JH
Yusk
J W
JW
D001848:Bone Diseases, Developmental / Q000151:congenital; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital; D010787:Photosensitivity Disorders / Q000151:congenital; D011884:Radius / Q000002:abnormalities*; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis; D012871:Skin Diseases / Q000175:diagnosis; D013577:Syndrome