A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?

Article type: Case Report

Authors: Sodero, G.^{; *} | Colonna, A. Turriziani | Purcaro, V. | Onesimo, R. | Zampino, G. | Vento, G.

Affiliations: Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

Correspondence: [*] Correspondence to: Giorgio Sodero, Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. E-mail: [email protected].

Abstract: EEC syndrome is an autosomal dominant genetic disease with incomplete penetrance characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate; these manifestations can differently occur in the affected subjects and can also be associated with other anomalies, such as in the urogenital tract. We reported the case of a newborn with prenatal diagnosis of EEC type 3 associated with severe cardiac abnormalities (Tetralogy of Fallot), high esophageal atresia with fistula and penoscrotal hypospadias.

Keywords: EEC syndrome, newborn, rare disease, tetralogy of Fallot

DOI: 10.3233/NPM-231217

Journal: Journal of Neonatal-Perinatal Medicine, vol. 16, no. 2, pp. 349-353, 2023