Bloom Syndrome in Two Siblings |
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Authors: | Sheikh Javeed Sultan MD Sheikh Tariq Sultan MBBS |
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Institution: | 1. SKIMS Medical College, Srinagar;2. Government Medical College, Srinagar, Kashmir, India |
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Abstract: | Abstract: 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. |
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