A Case of Synophthalmia with Chromosomal Anomaly: 46, XX, -15, t (15q, 21q).
- Author:
Byung Moon AHN
;
Woo Seog KIM
;
Moo Yung SONG
;
Un Jun HYOUNG
;
Jin Oh LEE
- Publication Type:Case Report
- MeSH:
Autopsy;
Brain;
Diagnosis;
Forehead;
Holoprosencephaly;
Humans;
Magnetic Resonance Imaging;
Neural Plate;
Skull
- From:Journal of the Korean Pediatric Society
1994;37(6):854-860
- CountryRepublic of Korea
- Language:Korean
-
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 (15 q, 21 q). 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.
