aCase 16 Answers
Figure 1, 2a and 2b. Frontal facial appearance of the patient and on attempting to look down and up.
a. Based on the facial features above, what is the most likely diagnosis?
Blepharophimosis. The patient has the characteristic features of:
Blepharophimosis is inherited in an autosomal dominant manner. In proband (ie affected individuals) without family history, the condition is believed to result from de novo genetic mutation which is estimated at 50%. Chromosomal analysis has shown that some individuals have cytogenetic rearrangements, such as interstitial deletions and translocations involving 3q23. FOXL2 mutation is the only gene currently known to be associated with this condition.
b. Is this condition associated with any systemic abnormalities?
Blepharophimosis has been divided into two types: type I and II. The facial features are common to both, the only difference is that type I patients have in addition premature ovarian failure. Gynaecology follow-up at a later date is advised. Premature ovarian failure may have the following blood test results:
Premature ovarian failure appears to be associated with the presence of FOXL2 gene mutation.
c. How may one improve the appearance of this patient?
Surgical correction aims to improve the four major features of this syndrome:
Figure 3. Surgical correction of the epicanthus inversus, reduced palpebral fissure and telecanthus
using the V-Y approach. The Mustarde's method was not used because more than four incisions
are used and in a small area such as the medial canthal region the risk of scaring is increased.
The canthal tendons were reattached using 4/0 prolene sutures.
The frontalis suspensions were performed using 2/0
Figure 4. Pre- and one-week post-operative appearance.
1. Zlotogora J, Sagi M, Cohen T (1983) The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 35:1020-7.
2. Amati P, Chomel JC, Nivelon-Chevalier A, Gilgenkrantz S, Kitzis A, Kaplan J, Bonneau D (1995) A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet 96:213-5.
3. Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E (2005) Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet 77:205-18.