ESPE Abstracts

Introduction: Ellis-Van Creveld syndrome is a syndrome progressing with postaxial polydactyly, short extremities, short height, dystrophic and/or hypoplastic nails, dental and oral anomalies, congenital heart disease and radiological abnormalities. Variations in several genes like EVC, EVC2, DYNC2H1, DYNC2LI1, GLI, SMO, PRKACA and PRKACB are considered responsible for the etiology of the syndrome.Case: An 11 year and 5 m...

Purpose: Transaldolase deficiency is a rare, multisystemic, autosomal recessive disease of carbohydrate metabolism characterized clinically by IUGR, bicytopenia (70%), congenital heart diseases (60%), dysmorphic features (50%), liver failure, hepatosplenomegaly, nephrolithiasis and endocrine disorders (30%).Case: A 15-year-5-month-old girl patient was admitted with primary amenorrhea. It was learned that the patient, who...