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Atypical Retinoblastoma in Sotos Syndrome (Cerebral Gigantism)
Noemi Ruiz del Río, MD;
Jose Manuel Abelairas Gómez, PhD;
Jesús María Peralta Calvo, PhD;
Pablo Miranda Lloret, MD
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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A 10-month-old girl was evaluated for unilateral leukokoria. Quick growth in association with normal growth hormone levels occurred during the first years of development.
Physical features were characteristic of Sotos syndrome (Figure 1). Developmental delay was also observed.
Figure appears in full text version.
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Figure 1. Note some diagnostic features typically listed as Sotos syndrome, including large hands (A), large feet (B), facial features including leukokoria (C), and a dolichocephalic skull (D).
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Funduscopy revealed a white retroequatorial endophytic retinal mass with vitreous seedings and multiple cysts emerging and floating within the gel (Figure 2), consistent with retinoblastoma in a grade Vb stage according to the Reese-Elsworth classification. Ocular examination results were otherwise normal. She was treated with radiotherapy and cryotherapy. At last follow-up at age 13 years, the tumor had a type IV . . . [Full Text of this Article] AUTHOR INFORMATION
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