A Case of Synophthalmia with Chromosomal Anomaly: 46, XX, -15, t (15q, 21q)
Journal of the Korean Pediatric Society
;
: 854-860, 1994.
Article
in Korean
| WPRIM
| ID: wpr-212365
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skull
/
Autopsy
/
Brain
/
Magnetic Resonance Imaging
/
Holoprosencephaly
/
Diagnosis
/
Neural Plate
/
Forehead
Type of study:
Diagnostic study
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
1994
Type:
Article
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