Paper Information

Journal:   JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S)   FALL 2006 , Volume 24 , Number 82 (SUPPLEMENT); Page(s) 1 To 3.
 
Paper: 

STURGE-WEBER SYNDROME: TWO CASES IN ONE FAMILY

 
 
Author(s):  ABDIRAD ISA*, OMRANI D., ASHRAFI H.
 
* DEPARTMENT OF GENETICS, MOTAHHARI HOSPITAL, URUMIEH UNIVERSITY OF MEDICAL SCIENCE, KASHANI ST. URUMIEH, WEST AZARBAIJAN, IRAN
 
Abstract: 

Sturge-Weber syndrome is a phakomatosis with two pathognomic features including cutaneous vascular nevus of the face and the leptomeningeal angiomatosis affecting the ipsilateral occipital lobe. The genetic basis of this syndrome is not known, the reported cases are sporadic and there is no report of any woman having given birth to more than one child with the Sturge-Weber syndrome. In this paper we report two children from one family affected by the Sturge-Weber syndrome, which to the best of our knowledge, is the first report of its kind.

 
Keyword(s): STURGE- WEBER SYNDROME, ENCEPHALOTRIGEMINAL ANGIOMATOSIS, PHAKOMATOSIS
 
References: 
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