Akademik Veri Yönetim Sistemi
JOURNAL OF CRANIOFACIAL SURGERY, cilt.35, sa.5, ss.472-474, 2024 (SCI-Expanded)
Hamamy Syndrome is an autosomal recessive syndrome with craniofacial, neurological, and osteological implications. Patients most commonly present with repeated long fractures however, other affected systems with their respective clinical presentations warrant a thorough reporting and understanding of this genetic disorder. Herein, the authors, present a 21-year-old male patient diagnosed with Hamamy Syndrome with bilateral stenosis of the optic canals and associated bilateral vision loss. This case report documents the patient’s initial presentation 6 years ago, which included a history of right vision loss for 2 months, followed by a 6-year follow-up period during which the patient underwent 3 optic nerve decompression surgeries. There is currently a limited number of reports in the English literature on Hamamy Syndrome, with the primary focus being on genetic, dental, orthopedic, and neuropsychiatric aspects, but the neural foraminal narrowing with associated neuropathy has never been reported.