Document Detail


Bloom syndrome in two siblings.
MedLine Citation:
PMID:  20537070     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Sheikh Javeed Sultan; Sheikh Tariq Sultan
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  27     ISSN:  1525-1470     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2010 Mar-Apr
Date Detail:
Created Date:  2010-06-11     Completed Date:  2010-09-27     Revised Date:  2011-01-11    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  174-7     Citation Subset:  IM    
Affiliation:
SKIMS Medical College, Srinagar, Kashmir, India. sjsultan@gmail.com
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MeSH Terms
Descriptor/Qualifier:
Bloom Syndrome / 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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