Arhinencephaly Unilateralis, Uveal Coloboma, and Lens Reduplication

Abstract

This 8-year-old white girl was the fifth child born to a 23-year-old woman who had previously had four normal children by the same father. Both parents were normal, and there was no family his­ tory of congenital defects. There was no history of consanguinity. The only abnormality during the pregnancy was occasional vomiting and low back pain during the first trimester. The mother had no diagnostic or therapeutic radiation. Labor and deliv­ ery were uncomplicated and the birth weight was 2,700 g. At birth, the child had lateral displacement of the right globe with apparent enlargement com­ pared to the left; however, the horizontal corneal diameters were equal. The right side of the nose was completely absent. There was an incomplete cleft lip on the right and a midline cleft palate. No treatment was given at that time. At 3 years of age, she was hospitalized for eval­ uation. She had no specific treatment during this hospitalization, and after discharge, she was admit­ ted to the Arkansas Children's Colony for the men­ tally retarded. At age 4 years, she had her first and only surgical procedure, performed by the plastic surgery division of the Arkansas Children's Hospi­ tal. An attempt was made to provide a tract from the right nostril area into the nasopharynx. This tract was kept open with a catheter, but after its removal, the fistula closed. Thereafter, the parents refused permission for further surgical procedures or examination under anesthesia.