A CASE WITH FRYNS SYNDROME-LIKE PHENOTYPE

Abstract

Abstract

Fryns syndrome is a rare autosomal recessive disorder with a heterogeneous phenotype. So far, about 112 cases have been reported and phenotypic heterogeneity has been shown. We are describing a male patient having facial dysmorphism, radial polydactyly, nail hypoplasia, ventricular septal defect, patent ductus arteriosus and intestinal adhesions. The patient was born after in vitro fertilization. With these findings, we thought that the patient may be a case with Fryns syndrome-like phenotype.