The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC):: Report of five cases

被引：13
|
作者：
Bigatà, X
Bielsa, I
Artigas, M
Azón, A
Ribera, M
Ferrándiz, C
机构：
[1] Univ Autonoma Barcelona, Hosp Germans Trias & Pujol, Dept Dermatol, Barcelona 08916, Spain
[2] Univ Autonoma Barcelona, Hosp Germans Trias & Pujol, Dept Pediat, Barcelona 08916, Spain
[3] Univ Rovira & Virgili, Hosp Sant Juan, Dept Dermatol, Tarragona, Spain
来源：
PEDIATRIC DERMATOLOGY | 2003年 / 20卷 / 02期
关键词：
D O I：
10.1046/j.1525-1470.2003.20203.x
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
We report five patients from two different pedigrees with the ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). All had features of ectodermal dysplasia, but only three had limb ectrodactyly and orofacial clefting. The present patients illustrate the great phenotypic variability in the EEC syndrome. As no single feature, including any of the three cardinal signs, is mandatory for syndrome diagnosis, a meticulous examination of all family members is needed.
引用
收藏
页码：113 / 118
页数：6
相关论文
共 50 条
  • [21] Ectrodactyly-ectodermal dysplasia clefting syndrome
    Adanali, G
    Senen, D
    Ayhan, M
    Erdogan, B
    ANNALS OF PLASTIC SURGERY, 2001, 47 (03) : 350 - 350
  • [22] Increased Tear Evaporation in a Patient with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
    Yukihiro Matsumoto
    Murat Dogru
    Eiki Goto
    Koji Endo
    Kazuo Tsubota
    Japanese Journal of Ophthalmology, 2004, 48 : 372 - 375
  • [23] Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency
    GershoniBaruch, R
    Goldscher, D
    Hochberg, Z
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 68 (02): : 168 - 172
  • [24] Treatment and Management of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome With Scleral Prosthetic Devices
    Labunski, Andrea
    Carrasquillo, Karen G.
    Brocks, Daniel
    EYE & CONTACT LENS-SCIENCE AND CLINICAL PRACTICE, 2023, 49 (06): : 262 - 265
  • [25] Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child
    Moerman, P
    Fryns, JP
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 63 (03): : 479 - 481
  • [26] PRUNE BELLY ANOMALY ON PRENATAL ULTRASOUND AS A PRESENTING FEATURE OF ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME (EEC)
    Janssens, S.
    Defoort, P.
    Vandenbroecke, C.
    Scheffer, H.
    Mortier, G.
    GENETIC COUNSELING, 2008, 19 (04): : 433 - 437
  • [27] Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome-Plastic Surgeon's Considerations
    Wojcicki, Piotr
    Wysocki, Mariusz
    Wojcicka, Karolina
    JOURNAL OF CRANIOFACIAL SURGERY, 2010, 21 (05) : 1388 - 1392
  • [28] Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis
    Orlandi, Giuliana
    Di Girolamo, Raffaella
    Carbone, Luigi
    Sarno, Laura
    Maresca, Antonia
    Fulgione, Caterina
    Mazzarelli, Laura Letizia
    D'antonio, Francesco
    Mappa, Ilenia
    Pietrolucci, Maria Elena
    Rizzo, Giuseppe
    Maruotti, Giuseppe Maria
    JOURNAL OF CLINICAL ULTRASOUND, 2023, 51 (08) : 1348 - 1355
  • [29] Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome
    Glorio, R
    Haas, R
    Jaimovich, L
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2003, 17 (03) : 356 - 358
  • [30] Mutations in p63 gene in ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and their relevance to the ocular phenotype
    Willoughby, CE
    Chen, I
    Ellis, I
    McGrath, JA
    Kaye, S
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46
12345