Limb-body wall complex with anophthalmos and choroidal coloboma

A 23-year-old primigravida underwent induced abortion in the 17th week of pregnancy because ultrasound fetometry had indicated possible encephalocele/hygroma of the skull and deformities of limbs and abdominal wall. The fetus delivered showed a deep facial cleft, absence of nose and maxilla, absence of parietal and frontal bones, missing right upper extremity, and a large thoracoabdominal defect with herniation of internal organs. The placenta was large, with an amniotic fold across the fetal surface. The brain was holoprosencephalic with a midline monoventricle and with focal brain wall dysplasia. The right orbit and eye were absent. The left eye was microphthalmic, with an abnormal cornea, a large choroidal coloboma inferiorly, a dysplastic retina, and a cataractous spherical lens. Theories discussed are pathogenesis of the limb-body wall complex (LBWC) and ocular malformations, particularly uveal coloboma. Previous cases of anophthalmos and uveal coloboma are listed. Microscopic examination of the eye was performed in only one of these. The present case is the sixth case published of choroidal coloboma in association with the LBWC.