Fryns syndrome, described by Fryns et al in 1979 is an autosomal recessive syndrome which is characterized by multiple congenital anomalies. As originally described, the major diagnostic criteria included abnormal facies, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia and diaphragmatic hernia with pulmonary hypoplasia. Since that time cardiovascular, gastrointestinal, genitourinary, central nervous and skeletal system anomalies have been described. Prenatal diagnosis of Fryns syndrome is possible by ultrasonography. We report two cases of Fryns syndrome, one of which was diagnosed prenatally. The diagnosis of Fryns syndrome is very important for genetic counseling.

Keywords: Fryns sendromu, konjenital diyafram hernisi, Fryns syndrome, congenital diaphragmatic hernia, multiple congenital anomalies.