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Head and neck
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Ectropion is the outward turning of the lower eyelid margin. Other related conditions include the following: Blepharochalasis is laxity of eyelid skin associated with aging.Blepharophimosis is an abnormally narrow palpebral fissure.Blepharoptosis (‘ptosis’) is an abnormally low upper lid margin (see above).
A case of blepharophimosis: Freeman Sheldon syndrome
Published in Ophthalmic Genetics, 2022
Scott Bowman, Gwen Noble, Bahram Rahmani, Marilyn Mets, Hantamalala Ralay Ranaivo, Valerie Castelluccio
Because our patient had been able to open her eyelids consistently since week 2 of life, surgical intervention for blepharophimosis was initially deferred as the risk of amblyopia was originally judged to be minimal. In addition to the aforementioned risks of anesthesia, surgical risks have also been documented. Patients with Freeman Sheldon syndrome have increased bleeding secondary to extensive regional muscular atrophy, as well as increased “cheese-wiring” of sutures with more fibrotic tissue compared to healthy pediatric patients (2). For our patient, follow-up with an oculoplastic surgeon for possible cosmetic ocular and facial reconstruction was scheduled several months after the exam under anesthesia. At this follow-up visit, the decision was made to proceed with eyelid surgery as there is concern for amblyopia in the left eye secondary to ptosis, blepharophimosis, and deep-set eyes; surgical planning is still underway. The patient also had congenital nasolacrimal duct obstruction of the left eye; however, probing and irrigation failed at 16 months of age due to obstruction from the abnormal facial anatomy.
Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies
Published in Orbit, 2023
Mansooreh Jamshidian-Tehrani, Kasra Cheraqpour, Alireza Nezamslami
Blepharophimosis is divided into two subtypes; type 1 is associated with primary ovarian failure, and type 2 is free of systemic associations. It seems that blepharophimosis is inherited in an autosomal dominant pattern.7 Evaluation of 28 human fetuses with eye disorders in different studies showed that blepharophimosis syndrome generally starts during the third month of gestation. This time is also considered as the time of nasolacrimal duct canalization.2,8 The syndrome has no predominance across sexes and races.9 In general, the prevalence of this disease is not well known. The diagnosis of blepharophimosis is completely based on clinical findings. Genetic evaluation and chromosome analysis on the FOXL gene can also be helpful.9