Introduction: Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene () function. The clinical spectrum includes early-onset global delay, dysmorphic facial features, auditory disorder, and reduced vision.
Materials And Methods: We report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14 months. Both were genetically studied to find the cause of their developmental delay and microcephaly.
Results: The identical compound heterozygous missense mutations in the gene were found in each. Ophthalmologically, both siblings were diagnosed with progressive congenital bilateral nuclear-lamellar cataracts.
Conclusions: We report nuclear-lamellar cataracts in two siblings diagnosed with You-Hoover-Fong syndrome.
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