All issues > Volume 37(6); 1994

Case Report

J Korean Pediatr Soc. 1994;37(6):854-860. Published online June 15, 1994.

A Case of Synophthalmia with Chromosomal Anomaly: 46,XX,-15,t(15q,21q)

Byung Moon BM Ahn¹, Woo Seog WS Kim¹, Moo Yung MY Song¹, Un Jun UJ Hyoung¹, Jin Oh JO Lee¹

¹Department of Pediatrics, Sung Ae Hospital, Seoul, Korea

Abstract

A synophthalmia, another form of cyclopia, in which the element of the two eyes are partially fused to form an apparently single eye in the middle of the forehead. The synophthalmia is a result of complex, neural plate misdevelopment syndrome involving the eye, brain, skull and face. It is well known that synophthalmia is due to heterogenous causes, most of which chromosomal imbalances. We experienced a case of synophthalmia associated with proboscis, alobar holoprosencephaly and chromosomal anomaly 46,XX,-15,t(15q,21q) . Diagnosis was confirmed by brain MRI and autopsy. The patient died about 20 hours of age and autopsy was done. A brief review of the literatures was also presented.

Keywords :Synophathalmia, Alobar Holoprosensephaly