Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report

Usang E. Usang, Thomas U. Agan, Akan W. Inyang, John-Daniel C. Emehute, Itam H. Itam

The occurrence of an anorectal malformation with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity. The infant had successful staged correction of her anorectal malformation but developed a metastatic Wilms' tumor and died before other corrective procedures could be instituted. An anorectal malformation is here reported to occur with Holt-Oram syndrome, an association that has not been reported previously. To enhance the prognosis and quality of life of children with syndromic anorectal malformation, prenatal ultrasound monitoring of high-risk pregnancies and expertise in prenatal detection of congenital anomalies are invaluable in antenatal care.