A case of blepharophimosis: Freeman Sheldon syndrome

ABSTRACT

Purpose

Important implications exist for ophthalmologists when considering possible early surgical intervention for potential amblyogenic anatomical abnormalities. The authors discuss the risks and benefits from an ophthalmological perspective of different interventions and review the genetic testing that confirmed the diagnosis.

Observations

The authors describe the findings and management of an infant with Freeman Sheldon syndrome presenting with blepharophimosis of both eyelids resulting in inability to open both eyes during the first several days of life. Although the mode of inheritance for Freeman Sheldon syndrome (formerly known as Whistling Face Syndrome) is often autosomal dominant, our patient had no known family history of congenital abnormalities or consanguinity. However, genetic testing confirmed a heterozygous variant in MYH3, consistent with autosomal dominant Freeman Sheldon Syndrome. When our patient required gastrostomy (G-tube_placement, we performed an exam under anesthesia (EUA)). As is typical for Freeman Sheldon syndrome patients, intubation was difficult and complicated by pneumothorax. Eye-opening improved slightly after several weeks of life; however, the decision was made to proceed with eyelid surgery to prevent deprivation amblyopia. Surgery is scheduled for a future date. Additionally, the patient had congenital nasolacrimal duct obstruction of the left eye; however, a probing and irrigation failed because of obstruction from the abnormal facial anatomy.

Conclusions and Importance

Patients with Freeman Sheldon syndrome are at increased risk for complications from anesthesia and surgery. Risks and benefits should be strongly considered and discussed with parent(s)/guardian(s) prior to any surgical intervention. Genetic testing of the MYH3 gene can confirm the diagnosis.

KEYWORDS:

• Freeman Sheldon
• strabismus
• ptosis
• blepharophimosis
• malignant hyperthermia
• MYH3

Highlights

• Freeman Sheldon syndrome is a rare cause of blepharophimosis and ptosis

• Surgical repair of anatomic abnormalities is dependent upon potential amblyogenic risk factors

• Patients with Freeman Sheldon syndrome have increased anesthetic and surgical risks including malignant hyperthermia, difficulties with intubation, and complications related to increased tissue fibrosis

Acknowledgments

The authors thank Hanta Ralay Ranaivo for their help in editing the manuscript and the figures.

Disclosure statement

The following authors have no financial disclosures: SB, MM, BR, GN, VC, HR.

All authors attest that they meet the current ICMJE criteria for Authorship.

Patient consent

The patient’s legal guardian consented to publication of the case in writing.

Additional information

Funding

The author(s) reported that there is no funding associated with the work featured in this article.