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The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases.
Pediatr Dermatol. 2003 Mar-Apr; 20(2):113-8.PD

Abstract

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.

Authors+Show Affiliations

Bigatà X
Department of Dermatology, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Spain.
Bielsa I
No affiliation info available
Artigas M
No affiliation info available
Azón A
No affiliation info available
Ribera M
No affiliation info available
Ferrándiz C
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentAdultChildCleft PalateEctodermal DysplasiaFemaleFoot Deformities, CongenitalGenetic TestingHand Deformities, CongenitalHumansMaleMiddle AgedPedigreePrognosisSampling StudiesSyndactylySyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12657005

Citation

Bigatà, Xavier, et al. "The Ectrodactyly-ectodermal Dysplasia-clefting Syndrome (EEC): Report of Five Cases." Pediatric Dermatology, vol. 20, no. 2, 2003, pp. 113-8.
Bigatà X, Bielsa I, Artigas M, et al. The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases. Pediatr Dermatol. 2003;20(2):113-8.
Bigatà, X., Bielsa, I., Artigas, M., Azón, A., Ribera, M., & Ferrándiz, C. (2003). The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases. Pediatric Dermatology, 20(2), 113-8.
Bigatà X, et al. The Ectrodactyly-ectodermal Dysplasia-clefting Syndrome (EEC): Report of Five Cases. Pediatr Dermatol. 2003 Mar-Apr;20(2):113-8. PubMed PMID: 12657005.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases. AU - Bigatà,Xavier, AU - Bielsa,Isabel, AU - Artigas,Merce, AU - Azón,Antoni, AU - Ribera,Miquel, AU - Ferrándiz,Carlos, PY - 2003/3/27/pubmed PY - 2003/7/24/medline PY - 2003/3/27/entrez SP - 113 EP - 8 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 20 IS - 2 N2 - 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. SN - 0736-8046 UR - https://www.unboundmedicine.com/medline/citation/12657005/The_ectrodactyly_ectodermal_dysplasia_clefting_syndrome__EEC_:_report_of_five_cases_ DB - PRIME DP - Unbound Medicine ER -