Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus۲۰۲۵مرورنمایه شده در PubMed
Lakshmi Soundarya Varsha Mallapragada, Verlyn Yang, Krishna Tumuluri
چکیده
Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) is a genetic disorder caused by variants in BRPF1. We report the case of a 2-year-old girl who presented with drooping of the left upper lid since birth and who was ultimately diagnosed with IDDDFP. Genetic testing…
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DOI: 10.1016/j.jaapos.2025.104278