Ocular Presentation in Type II Thanatophoric Dysplasia Infant
Purpose
To describe the specific ocular findings in the case of a newborn male infant with thanatophoric dysplasia (TD) type II, born alive via cesarean section at 35 weeks
Methods
Ophthalmology was consulted to evaluate a male infant, born via cesarean section at 35 weeks with suspected thanatophoric dysplasia. On eye examination, he was noted to have telecanthus, bilateral proptosis ,lagophthalmos and exotropia. A review of the literature was performed
Results
Patient was born via an uncomplicated cesarean section at 35 weeks to a 28 year old, with no significant past medical history nor family history .An ultrasound performed at 16 weeks of gestation demonstrated micromelia of the long bones, hypoplastic thorax, no discernible cerebral tissues and possible hydrocephalus, consistent with a lethal skeletal dysplasia, likely thanatophoric dysplasia. Patient’s birth weight was 2,530grams with thanatophoric figure, required CPAP. On eye exam demonstrated response to light in both eyes. Intraocular pressures of the right eye measured 17mmHg and the left eye 5mmHg. He was noted to have telecanthus. Mild proptosis was also seen, left eye greater than the right. An exotropia of greater than 50 prism diopters was measured. Slit lamp and fundus exam revealed normal finding
Conclusion
A review of the literature was performed and failed to produce significant descriptions of previously described ocular findings whom usually results in inutero fetal demise or second trimester termination. Our case provides specific information regarding the eye abnormalities noted in our thanatophoric dysplasia type II patient, including exotropia, telecanthus and lagophthalmus