AEC syndrome and CHAND syndrome: Further evidence of clinical overlapping in the ectodermal dysplasias

被引:14
作者
Bertola, DR [1 ]
Kim, CA [1 ]
Sugayama, SMM [1 ]
Albano, LMJ [1 ]
Utagawa, CY [1 ]
Gonzalez, CH [1 ]
机构
[1] Univ Sao Paulo, FM, Hosp Clin, Inst Crianca,Dept Pediat, BR-05403900 Sao Paulo, Brazil
关键词
D O I
10.1046/j.1525-1470.2000.01756.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Among the ectodermal dysplasias, there are several examples of overlapping phenotypes in disorders that are considered distinct. We report a 5-year-old boy born to nonconsanguineous parents and presenting with ectodermal dysplasia, ankyloblepharon filiforme adnatum, and bilateral choanal atresia consistent with the diagnosis of AEC syndrome. We compare the findings in our patient with the previous reported cases and discuss the overlapping phenotype of this disorder with CHAND syndrome.
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收藏
页码:218 / 221
页数:4
相关论文
共 21 条
[1]  
BAUGHMAN F A JR, 1971, Birth Defects Original Article Series, V7, P100
[2]   RAPP-HODGKIN SYNDROME AND AEC SYNDROME - ARE THEY THE SAME ENTITY [J].
CAMBIAGHI, S ;
TADINI, G ;
BARBARESCHI, M ;
MENNI, S ;
CAPUTO, R .
BRITISH JOURNAL OF DERMATOLOGY, 1994, 130 (01) :97-101
[3]  
FERNANDEZ DY, 1993, VER ESP PEDIAT, V49, P356
[4]  
Freire-Maia NPM, 1984, ECTODERMAL DYSPLASIA
[5]  
Gras J R, 1991, An Otorrinolaringol Ibero Am, V18, P249
[6]   VARIABLE EXPRESSION IN ANKYLOBLEPHARON-ECTODERMAL DEFECTS CLEFT-LIP AND PALATE SYNDROME [J].
GREENE, SL ;
MICHELS, VV ;
DOYLE, JA .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (01) :207-212
[7]  
HAY RJ, 1976, BRIT J DERMATOL, V94, P287
[8]  
*J HOPK U CTR MED, 1999, ONL MEND INH MAN
[9]   What syndrome is this? [J].
Mancini, AJ ;
Paller, AS .
PEDIATRIC DERMATOLOGY, 1997, 14 (05) :403-405
[10]  
Martinez y Martinez R, 1989, Bol Med Hosp Infant Mex, V46, P349