Rothmund-Thomson syndrome in two siblings.
Rothmund-Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including poikiloderma, atrophy, and telangiectases; juvenile cataracts; short stature; and bone defects. We describe two siblings with this syndrome.
Nanda
A
A
Department of Dermatology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Kanwar
A J
AJ
Kapoor
M M
MM
Thappa
D M
DM
Radotra
B D
BD
Vaishnavi
C
C
Kaur
S
S
D001848:Bone Diseases, Developmental / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D010787:Photosensitivity Disorders / Q000235:genetics*; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics