Anophthalmic Cyclopia with Proboscis, Acardia, Amelia, Sirenomelia – Case Report

Abstract

True or primary anophthalmic cyclopia is an extremely rare and severe malformation of eye. It is the apparent absence of eyeball in a median orbit and it results from failure of the optic vesicle (optic primordial) to form from the cerebral or prosencephalic vesicles. Proboscis is a skin-covered median tubular appendage above the anophthalmic median orbit. It results from the defective development of the olfactory placodes. Sirenomelia, or mermaid syndrome, is a rare abnormality characterized by complete or incomplete fusion of lower limbs. Acardiacus is a fatal complication of monozygotic twin pregnancy. The acardiacus maintains its circulation through the heart of its normal twin reversed arterial perfusion mate. This manuscript reports on a severely malformed monozygotic stillborn twin with anophthalmic cyclopia, proboscis, acardia, absence of upper limb, sirenomelia, and aprosencephaly; agenesis of diaphragm, respiratory system, genitourinary system, lymphatic system, endocrine system, and external genitalia; and intestinal atresia, liver atresia, vascular atresia, hypoplastic skeletal system, and muscular system. In general, in all these fetal abnormalities, there are various degrees of malformation causing group of groups of anomalies. Probable cause of these anomalies is discussed.