Holoprosencephaly with Synophthalmia: A Perinatal Autopsy

Abstract

Holoprosencephaly with Synophthalmia is a rare congenital developmental disorder which was  diagnosed by perinatal autopsy. This case report presents a detailed gross and histologic examination of  eyes and brain of a baby with synophthalmia. Incidence of synophthalmia is 1 in 16000 born animal and 1  in 25000 that end in miscarriage. (Tabers cyclopedic medical Dictionary ISBNO-8036-O654-O) A 24  years primi presented with IUD at 29 weeks of her gestation. On internal examination forebrain failed to  separate and, had cyclopia (Single Eye) and nose in the form of proboscis (Tubular appendage).  Histopathological examination confirmed eye ball structure. Final autopsy diagnosis was  Holoprosencephaly with Synophthalmia. Genetic cause and toxin can interfere with embryonic forebrain  dividing process. One highly teratogenic substance is Cyclopamine (Teratology Society). Cause of death  identified as multiple congenital anomalies. Karyotyping was indicated but not feasible due to delayed  autopsy. This case presented here not only of its rarity but also rarity of its diagnosis by perinatal autopsy.  Legal and ethical constrains need to be addressed carefully otherwise perinatal autopsy which is gold standard in diagnosing perinatal death will be a dying art.