The analysis of the literature and author's observations of the "EEC" syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) revealed that this is a disorder with an autosomal-dominant type of inheritance with an incomplete penetrance and varying expressivity. Both sexes are affected with the same frequency. The complete form of the syndrome was mentioned in 27 cases only; all other patients had incomplete forms. The combination of two out of 3 main features is enough for the diagnosis of this syndrome. The most common trait of the "EEC" syndrome is ectrodactyly (73/77), clefts of lip or palate were observed in 53 patients out of 77, the ectodermal dysplasia was mentioned in 44 cases. There is an increase of mutation frequency in older parents.

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  • A male newborn was found to have low TREC values, indicating T cell lymphopenia, and genetic testing revealed a mutation linked to Ectrodactyly-Ectodermal Dysplasia-Cleft lip/palate syndrome (EEC).
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  • Pathogenic variants in a specific transcription factor are linked to syndromes like EEC and AEC, and this case report presents an infant with severe T cell lymphopenia, detected during newborn screening.
  • Flow cytometry revealed low levels of CD4+ and almost no CD8+ T cells, while the B and NK cell levels were normal; further genetic analysis identified a particular variant in the transcription factor.
  • Using an artificial thymic organoid system, researchers found that T cell differentiation occurred, implying a thymic defect, leading to the patient receiving an allogenic cultured thymus tissue implant, which showed promising signs of T cell development after 9 months.
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  • - Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome affects ectodermal and mesodermal tissues, leading to issues like split hands/feet, ectodermal dysplasia, and orofacial clefting, requiring a multidisciplinary treatment approach.
  • - A case study details a young child with EEC syndrome who developed a peripheral giant cell granuloma (PGCG) in the lower jaw, which was surgically removed and followed up for 24 months with no recurrence.
  • - The findings emphasize the crucial role of dentists in diagnosing and managing oral health issues associated with EEC syndrome.
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