Rothmund-Thomson syndrome in fraternal twins.
Fraternal twins of Malay descent had the Rothmund-Thomson syndrome. This is a rare, autosomal recessive disorder characterized by photosensitivity, poikiloderma, short stature, skeletal defects, and juvenile cataracts. This is the first case report of the syndrome from southeast Asia.
Tong
M
M
Skin Department, General Hospital of Kuala Lumpur, Malaysia.
D000293:Adolescent; D001827:Body Height / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities; D002386:Cataract / Q000235:genetics; D004200:Diseases in Twins; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008296:Malaysia; D008297:Male; D008663:Metacarpus / Q000473:pathology; D010026:Osteosclerosis / Q000235:genetics; D010787:Photosensitivity Disorders / Q000235:genetics; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D014429:Twins, Dizygotic