2023 Journal of neonatal-perinatal…

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

, , , , ,

Journal of neonatal-perinatal medicine Vol. 16 (2) : 349-353 • Jan 2023

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.

No clinical trial protocols linked to this paper

Clinical trials are automatically linked when NCT numbers are found in the paper's title or abstract.
PICO Elements

No PICO elements extracted yet. Click "Extract PICO" to analyze this paper.

Paper Details
MeSH Terms
Associated Data

No associated datasets or code repositories found for this paper.

Related Papers

Related paper suggestions will be available in future updates.