Waardenburg syndrome: case report

被引:9
作者
Krishtul, A
Galadari, I
机构
[1] NYU, Mt Sinai Sch Med, Dept Dermatol, New York, NY 10029 USA
[2] United Arab Emirates Univ Al Ain, Dept Dermatol, Dubai, U Arab Emirates
关键词
D O I
10.1046/j.1365-4362.2003.01949_3.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
A 15-year-old Arab boy presented with congenital deafness, heterochromia iridis (right, brown; left, blue), poliosis (white forelock), with an area of leukoderma beneath the forelock, broad nasal root, and lateral displacement of the medial canthi (Fig. 1). Further investigation revealed that one of his siblings was similarly affected. The child was diagnosed with Waardenburg syndrome. As the child grew older, the leukodermic patch on the scalp became more evident, together with confluence of the eyebrows (synophrys).
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收藏
页码:651 / 652
页数:2
相关论文
共 14 条
[1]  
ARIAS S, 1971, Birth Defects Original Article Series, V7, P87
[2]   Interaction among SOX10 PAX3 and MITF, three genes altered in Waardenburg syndrome [J].
Bondurand, N ;
Pingault, V ;
Goerich, DE ;
Lemort, N ;
Sock, E ;
Le Caignec, C ;
Wegner, M ;
Goossens, M .
HUMAN MOLECULAR GENETICS, 2000, 9 (13) :1907-1917
[3]   Waardenburg syndrome [J].
Dourmishev, AL ;
Dourmishev, LA ;
Schwartz, RA ;
Janniger, CK .
INTERNATIONAL JOURNAL OF DERMATOLOGY, 1999, 38 (09) :656-663
[4]  
FISCH L, 1959, J LARYNGOL OTOL, V73, P353
[5]  
HAGEMAN MJ, 1978, TROP GEOGR MED, V30, P45
[6]   WAARDENBURG SYNDROME TYPE-II - PHENOTYPIC FINDINGS AND DIAGNOSTIC-CRITERIA [J].
LIU, XZ ;
NEWTON, VE ;
READ, AP .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 55 (01) :95-100
[7]  
MARGOLIS E, 1962, ACTA GENET STAT MED, V12, P12
[9]  
PARTINGTON MW, 1964, CAN MED ASSOC J, V90, P1008
[10]   Waardenburg syndrome [J].
Read, AP ;
Newton, VE .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (08) :656-665