title: Rothmund-Thomson syndrome in two siblings.
abstract: 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.
authors.affiliation: Department of Dermatology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: A
authors.initials: A
authors.lastname: Nanda
authors.forename: A J
authors.initials: AJ
authors.lastname: Kanwar
authors.forename: M M
authors.initials: MM
authors.lastname: Kapoor
authors.forename: D M
authors.initials: DM
authors.lastname: Thappa
authors.forename: B D
authors.initials: BD
authors.lastname: Radotra
authors.forename: C
authors.initials: C
authors.lastname: Vaishnavi
authors.forename: S
authors.initials: S
authors.lastname: Kaur
mesh_terms: 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