Microphthalmia in a case of Edward syndrome.
OBJECTIVE
To present an infant of trisomy 18 (Edwards Syndrome) with unilateral microphthalmia.


METHODS
A female infant who was born at 41 weeks of gestation had been diagnosed with Edwards Syndrome (ES). On ophthalmic examination, microphthalmia, microcornea, optic disc coloboma, and persistent hyaloid artery were determined in the left eye. In addition, abnormalities in the ears, hands, feet, and cardiovascular system were present.


CONCLUSIONS
With this case report, we aimed to highlight the relationship between ocular disgenesis and chromosomal disorders and the importance of prenatal testing and genetic counseling for parents.
Ministry of Health, Zekai Tahir Burak Women's Health Research and Education Hospital , Ankara , Turkey and.
D Erginturk
DE
Acar
U
U
Acar
O
O
Ozdemir
Z T
ZT
Ozen
E S
ES
Cakar
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001724:Birth Weight; D002887:Chromosomes, Human, Pair 18; D003103:Coloboma / Q000175:diagnosis*; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos / Q000175:diagnosis*; D009898:Optic Disk / Q000002:abnormalities*; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis*; D000073842:Trisomy 18 Syndrome