This 8 year-old boy had had corrective surgery to his eyelids.
a. What is the diagnosis of the primary condition?Blepharophimosis syndrome.
In this condition, the following features are observed:
blepharophimosis (narrowing of the palpebral fissures in all dimensions) ptosis epicanthus inversus telecanthus (widening of the distance between the medial canthi) hypoplatic orbital rim poorly developed nasal bridge
b. What is the significant of this condition?This is a congenital condition inherited in an autosomal dominant fashion.c. What corrective surgery did he undergo?
The vision is usually normal. In females, there may be associated infertility due to primary amenorrhoea.Figure 2. shows that the patient had had the following lid operation:
- levator resection for ptosis
- V-Y plasty for epicanthus inversus and telecanthus
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