Two interesting cases of EEC syndrome [PDF]
Journal of Oral Biology and Craniofacial Research, 2013 Aim: To report two cases of EEC syndrome with oral involvement to highlight the fact that the dental surgeon may be among the first to recognise the condition.
Mariyam Iqbal Ali +3 more
doaj +7 more sources
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome) [PDF]
Journal of Oral Biology and Craniofacial Research, 2014 Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is ...
Monika Koul +2 more
doaj +7 more sources
Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome [PDF]
Cells, 2023 Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is caused by heterozygous missense point mutations in the p63 gene, an important transcription factor during embryogenesis and for stem cell differentiation in stratified epithelia.
Vanessa Barbaro +4 more
doaj +4 more sources
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome) with Tetralogy of Fallot: a very rare combination [PDF]
Frontiers in Pediatrics, 2015 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births.
Deepak eSharma +5 more
doaj +3 more sources
Two case reports with literature review of the EEC syndrome: Clinical presentation and management [PDF]
Case Reports in Plastic Surgery & Hand Surgery, 2015 We report on siblings who suffer from EEC syndrome and show our experiences of the `Basel concept` of cleft lip/palate repair based on the early, one-stage closure of all components.
Marcello Augello +2 more
exaly +4 more sources
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome [PDF]
American Journal of Medical Genetics, Part A, 2013 Human Ectrodactyly, Ectodermal dysplasia, Clefting (EEC) syndrome is an autosomal dominant developmental disorder defined by limb deformities, skin defects, and craniofacial clefting.
Alea A Mills
exaly +3 more sources
Ectrodactyly ectodermal dysplasia cleft lip (EEC) syndrome [PDF]
Indian Dermatology Online Journal, 2023 Rohit Kothari +2 more
doaj +4 more sources
EEC syndrome and genitourinary anomalies: An update
American Journal of Medical Genetics Part A, 1996 We report on a large family with the ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome. The clinical manifestations in this family show great variability. Specific genitourinary anomalies were found.
Saskia M Maas +2 more
exaly +5 more sources
Differentially Expressed Genes in EEC and LMS Syndromes.
PLoS ONE, 2015 ObjectivesEctrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome and limb-mammary syndrome (LMS) share a similar phenotype and the same pathogenic gene, which complicates the ability to distinguish between these diagnoses.
Wei Yin +3 more
doaj +5 more sources
Anesthetic consideration for a patient with EEC syndrome and cardiac disease [PDF]
Saudi Journal of Anaesthesia, 2023 Masanori Tsukamoto +4 more
doaj +4 more sources