Congenital ectropion in Noonan syndrome

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Noonan syndrome is a genetic disorder characterized by a wide range of phenotypes, often including ocular and periocular abnormalities.
• Eyelid abnormalities are common in Noonan syndrome, but ectropion is a rare manifestation.

Observation:

• A 10-year-old female with features of Noonan syndrome presented with bilateral congenital ectropion, euryblepharon, and lagophthalmos.
• The patient exhibited other syndromic features including facial dysmorphia, scoliosis, short stature, muscular hypotonia, patent foramen ovale, and maturational delay.

Findings:

• Surgical correction of bilateral lower eyelid ectropion was achieved using full-thickness autologous skin grafts and bilateral lateral canthoplasty.
• The surgical intervention successfully resolved the ectropion and improved eyelid occlusion, with positive Bell's phenomenon noted preoperatively.

Implications:

• This case demonstrates that eyelid ectropion, though rare, can be a significant ophthalmological finding in Noonan syndrome.
• Full-thickness skin grafts combined with lateral canthoplasty represent an effective surgical approach for correcting eyelid ectropion in pediatric patients with Noonan syndrome.