Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities

Cunniff, Christopher; Curtis, Mary A.; Hassed, Susan J.; Hoyme, H. Eugene

doi:10.1002/(sici)1096-8628(19980106)75:1<52::aid-ajmg11>3.0.co;2-r

Cited by 31 publications

(12 citation statements)

References 16 publications

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“…It is associated with telecanthus, raised arched eyebrows (due to over action of the frontalis muscle rather than an anatomical abnormality), abnormalities of the eyelid margin and lacrimal drainage apparatus, strabismus, microphthalmos and optic disc colobomas 1,3−5 . Non‐ocular associations include female infertility (ovarian failure), broad flat nasal bridge, arched palate, protruding or cup shaped ears, cardiac defects and mental retardation, although the last is controversial 3,6 . Mutation of the gene FOXL2 has recently been described as a cause of BPES 7 …”

Section: Introductionmentioning

confidence: 99%

Blepharophimosis: a recommendation for early surgery in patients with severe ptosis

Beckingsale¹,

Sullivan²,

Wong³

et al. 2003

Clinical Exper Ophthalmology

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Purpose: To determine the optimal age for surgical correction of blepharophimosis. Associated features and their effects on incidence of amblyopia were also investigated. Methods: The study was a retrospective case series of 28 patients with blepharophimosis, ptosis and epicanthus inversus syndrome presenting to a tertiary referral eyelid, lacrimal and orbital clinic. Results: Amblyopia was present in 39% of patients. Patients with coexistent strabismus had a 64% incidence of amblyopia compared to 24% for those without strabismus. Hypermetropia was present in 43% of patients and 7% were myopic. Significant astigmatism was found in 40% of patients, but these factors did not increase the risk of amblyopia. Patients with severe ptosis had lower rates of amblyopia than those with moderate ptosis but had their ptosis corrected at a median age of 2 years compared to 5 years for those with moderate ptosis. There was an 18% incidence of nasolacrimal drainage problems. A good to excellent cosmetic outcome was achieved in 86% of patients. A positive family history was noted in 75% of patients, usually with paternal inheritance. Conclusions: Patients with blepharophimosis have a high rate of amblyopia. Co‐existent strabismus doubles the risk of amblyopia. Ptosis alone causes mild to moderate amblyopia only. Patients with severe ptosis should have their ptosis corrected before 3 years of age, and all other patients should undergo surgery before 5 years of age.

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Section: Introductionmentioning

confidence: 99%

Blepharophimosis: a recommendation for early surgery in patients with severe ptosis

Beckingsale¹,

Sullivan²,

Wong³

et al. 2003

Clinical Exper Ophthalmology

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“…Similar to BS, eye and airway problems are also present in Freeman-Sheldon syndrome, Dubowitz syndrome and Noonan syndrome. These syndromes may cause blepharophimosis and airway anomalies as well as other systemic involvement (5)(6)(7)(8)(9). Patients with BS refer to the hospital for ophthalmic surgery in childhood and adolescence.…”

Section: Discussionmentioning

confidence: 99%

Difficult airway management of a child with Blepharophimosis Syndrome: Case report

Özkan¹,

Polat²,

Akbaş³

et al. 2017

J Turgut Ozal Med Cent

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Blepharophimosis syndrome (BS) is a rare autosomal dominant syndrome characterized by eyelid malformations, and abnormal facial morphology. Flat and wide nasal roots, short neck, restricted mouth opening and neck extension, characteristic facial appearance, microcephaly and micrognathia make airway management of patients with BS important for anesthesiologists. Due to systemic pathologies and craniofacial anomalies, difficult airway may be seen in these patients and anesthesia management is important in patients with BS. Because of the difficult airway risk, it is important to determine the anesthetic method and make the necessary preparations. In this case report, we aimed to present difficult airway management of a patient with BS who underwent surgery for ocular disorders. This case report is the second case presented by successful airway management in general anesthesia practice.

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“…These syndromes can have other systemic involvement along with blepharophimosis and airway involvement [Table 1]. [6–10]…”

Section: Discussionmentioning

confidence: 99%

Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery

Baidya

Khanna

Kumar

et al. 2011

J Anaesthesiol Clin Pharmacol

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Blepharophimosis syndrome is an autosomal dominant disorder characterized by eyelid malformation, involvement of reproductive system and abnormal facial morphology leading to difficult airway. We report a rare association of blepharophimosis syndrome and atrial septal defect in a 10-year-old girl who came for reconstruction surgery of eyelid. The child had dyspnea on exertion. Atrial septal defect was identified preoperatively by clinical examination and echocardiography. Anesthesia management was complicated by failure in laryngeal mask airway placement and Cobra perilaryngeal airway was subsequently used.

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Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities

Cited by 31 publications

References 16 publications

Blepharophimosis: a recommendation for early surgery in patients with severe ptosis

Blepharophimosis: a recommendation for early surgery in patients with severe ptosis

Difficult airway management of a child with Blepharophimosis Syndrome: Case report

Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery

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