Fetal abdominal kist: McKusick Kaufman sendromu

Fetal abdominal cystic masses can grow out of the structures in the abdominal cavity, mostly involving gastrointestinal and urogenital systems. McKusick-Kaufman syndrome (MKKS) is characterized by the triad of postaxial polydactyly, congenital heart disease, and hydrometrocolpos in females and genital malformations in males (most commonly hypospadias). Here, we report a case of MKKS in a female newborn presenting with fetal abdominal mass prenatally. Prenatal ultrasound of the infant revealed large cystic abdominal mass. The baby was diagnosed to have MKS with the physical examination findings of 9x9 cm hard, mobile mass in the abdominal cavity, postaxial Polydactyly, single urogenital sinus, and the history of a sibling diagnosed with MKKS. MKKS should be considered in the differential diagnosis of fetal abdominal masses. Detailed prenatal malformation screening is becoming important when a fetal abdominal cystic mass is detected.