Paper Information

Journal:   ACTA MEDICA IRANICA   2004 , Volume 42 , Number 2; Page(s) 146 To 148.
 
Paper: 

KINDLER S SYNDROME: THE FIRST REPORT OF FOUR SIBLINGS WITH NEW FINDINGS

 
 
Author(s):  GHANINEZHAD H., BALIGHI K., EHSANI AMIR HOUSHANG, HOSEINI M.
 
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Abstract: 
Kindlers syndrome is a rare entity of unknown cause characterized by acral blisters early in life followed by progressive diffuse poikiloderma and cutaneous atrophy. The inheritance pattern of this syndrome is not clear. We report four Iranian siblings (three boys and one girl) with this syndrome, who were the result of a consanguineous marriage. In addition to the usual manifestations of the syndrome, corneal epithelial punctate defects were detected in all four, and segmental chorioretinal atrophy in one case. This is the first report of the affliction of four siblings, and also the first report of the association of the above ophthalmologic findings with Kindlers syndrome
 
Keyword(s): KINDLER S SYNDROME, EYE
 
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