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Anophthalmic cyclopia with proboscis, acardia, amelia, sirenomelia – Case report
Bini Markose1, Deepti Shastri2, B Rajesh3, Jinu Merlin Koshy4
1 Research Scholar, Department of Anatomy, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu; Department of Anatomy, Amala Institute of Medical Sciences, Thrissur, Kerala, India
2 Department of Anatomy, Vinayaka Mission's Kirupananda Variyar Medical College, Salem, Tamil Nadu, India
3 Department of Anatomy, Sri Lakshmi Narayana Institute of Medical Sciences, Bharath Institute of Higher Education and Research, Puducherry, India
4 Department of Anatomy, Sree Balaji Medical College and Hospital, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, India
Correspondence Address:
Dr. Jinu Merlin Koshy
Department of Anatomy, Sree Balaji Medical College and Hospital, 7, Works Road, Chrompet, Chennai - 600 044, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/JASI.JASI_19_20
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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.
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