| Bloom syndrome in two siblings. | |
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MedLine Citation:
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PMID: 20537070 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Sheikh Javeed Sultan; Sheikh Tariq Sultan |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric dermatology Volume: 27 ISSN: 1525-1470 ISO Abbreviation: Pediatr Dermatol Publication Date: 2010 Mar-Apr |
Date Detail:
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Created Date: 2010-06-11 Completed Date: 2010-09-27 Revised Date: 2011-01-11 |
Medline Journal Info:
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Nlm Unique ID: 8406799 Medline TA: Pediatr Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 174-7 Citation Subset: IM |
Affiliation:
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SKIMS Medical College, Srinagar, Kashmir, India. sjsultan@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bloom Syndrome
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diagnosis*,
genetics Child Cryptorchidism / diagnosis, genetics Exanthema / diagnosis, genetics Failure to Thrive / diagnosis, genetics Humans Male Photosensitivity Disorders / diagnosis, genetics Siblings* Sister Chromatid Exchange |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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