Optic atrophy in Lamb-Shaffer syndrome: two case presentations with ophthalmic imaging studies.

چکیده

Lamb-Shaffer syndrome is a rare neuro-developmental disorder associated with haploinsufficiency of the SOX5 gene. Clinical manifestations include speech delay, behavioral challenges, intellectual disability, and dysmorphic features. Up to 57% of patients have ophthalmic findings, including…

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موضوعات مرتبط

• تصویربرداری و تشخیص
• چشم پزشکی کودکان