Bloom syndrome in two siblings.
Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.
SKIMS Medical College, Srinagar, Kashmir, India. sjsultan@gmail.com
Sheikh Javeed
SJ
Sultan
Sheikh Tariq
ST
Sultan
D001816:Bloom Syndrome / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003456:Cryptorchidism / Q000175:diagnosis / Q000235:genetics; D005076:Exanthema / Q000175:diagnosis / Q000235:genetics; D005183:Failure to Thrive / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders / Q000175:diagnosis / Q000235:genetics; D035781:Siblings; D012854:Sister Chromatid Exchange