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High Myopia Associated with Triple X Syndrome
1Department of Ophthalmology, Nara Medical University , Nara, Japan.
Triple X syndrome (47 XXX) can cause tall stature in girls, often overlooked. Early detection through thorough evaluation is crucial for timely intervention and management.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Tall stature in children warrants comprehensive investigation.
- Triple X syndrome (47,XXX) is a genetic condition that can present with overgrowth.
Observation:
- A 3-year-old girl exhibited extreme tall stature (+4.35 SD).
- Ocular findings included high myopia, thin retinas, subluxated lenses, and elongated axial length via OCT.
Findings:
- The patient's presentation suggested Triple X syndrome as a cause for tall stature.
- The case highlights the importance of considering genetic disorders in pediatric tall stature.
Implications:
- Thorough evaluation for endocrinological, connective tissue, and genetic disorders is recommended for tall girls.
- Behavioral issues may prompt consideration of chromosomal abnormalities like 47,XXX or 47,XXY.
- Triple X syndrome is an underrecognized cause of pediatric tall stature requiring high clinical suspicion.
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