Caudal regression syndrome (CRS) is a rare congenital disorder characterized by arrest of caudal spinal growth and associated with wide spectrum multisystemic anomalies. Herein, we presented a case of a newborn baby who did not pass meconium due to imperforated anus and was referred to the pediatric surgeon for urgent diverting loop colostomy. The conventional X-ray, abdominal ultrasound and abdominal pelvic magnetic resonance imaging (1.5 T) at 2-month-old age revealed right kidney agenesis, sacrococcygeal agenesis, vertebral bodies dysraphism and the spinal cord ends at D12-L1 with anterior and posterior bands of the terminating filaments. The diagnosis of CRS was confirmed. Through this case report, we hope to draw attention to this rare syndrome and the wide range of associated anomalies, also to consider this syndrome on the top of differential diagnosis list once the newborn has anorectal malformation mainly imperforated anus.

Background: Mayer-Rokitansky Küster-Hauser syndrome MRKHS represents class I of congenital Müllerian anomaly, which resulted from interruption of embryonic development of the paramesonephric ducts in early pregnancy. It is characterized by uterine and proximal vaginal aplasia/hypoplasia associated with variable degree of cardiac, renal, and skeletal anomalies. We aimed to review and analyze clinically and radiologically MRKHS relying on three young sisters’ cases who presented with primary amenorrhea and were found to have features of MRKHS. Case presentation: Three sisters aging 17, 20, and 25 years old presented with primary amenorrhea. Clinical workup was performed followed by ultrasound and MRI of the abdomen and pelvis, spine X-ray, audiogram, echocardiogram, hormonal study, and karyotyping. The three sisters had normal sex hormones and mature secondary sexual characteristic features. Additionally, cardiac valvular regurgitation and renal hypoplasia were recognized. Cytogenetic confirmed normal female 46 XX karyotype. MRI showed variable size and appearance of Müllerian remnant tissue of the uterus and proximal vagina. Conclusion: MRKHS shows variable size and appearance of Müllerian remnant structures; however, it seems that the smaller the volume of remnant tissue the more severe associated anomalies. Associated valvular cardiac disease is documented, which was not reported before.