High Myopia Associated with Triple X Syndrome

We report our findings in a 3-year-old girl who was suspected of having triple X syndrome because she was taller than +4.35 standard deviations for her age. She also had high myopia. Optical coherence tomography (OCT) showed that her retinas were thin, the lenses were subluxated, and the axial length was elongated. Our findings indicate that for a female child with tall stature, there should be thorough evaluations for endocrinological disorders, overgrowth syndromes, connective tissue disorders, and genetic disorders. If there are also behavioral issues, this may lead to consideration of 47 XXX in a female or 47 XXY in a male infant. The 47 XXX syndrome is a potential and neglected cause for tall stature and requires a high index of suspicion.