Sphenoid Dysplasia: A Rare Presentation of Infantile Myofibroma
| Autor: | Aparna Ramasubramanian, Ashwini Kini, Jessica Hata, Christopher J. Compton, Reema Syed |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
medicine.medical_specialty genetic structures Myofibroma Sphenoid bone Physical examination 03 medical and health sciences 0302 clinical medicine Ptosis Sphenoid Bone medicine Humans Neurofibromatosis medicine.diagnostic_test business.industry Infant Newborn General Medicine Aplasia medicine.disease Dermatology eye diseases Ophthalmology Facial Asymmetry Dysplasia 030220 oncology & carcinogenesis 030221 ophthalmology & optometry Orbital Neoplasms Surgery Presentation (obstetrics) medicine.symptom business |
| Zdroj: | Ophthalmic plastic and reconstructive surgery. 34(2) |
| ISSN: | 1537-2677 |
| Popis: | The authors report a case of isolated congenital orbital myofibroma causing sphenoid dysplasia and presenting as global restriction of extraocular motility and ptosis in a neonate. Sphenoid wing dysplasia is most commonly associated neurofibromatosis 1 but this patient had no evidence of neurofibromatosis on clinical examination and genetic testing. Congenital orbital myofibroma can have secondary effects on bone and likely the lesion was present early in development leading to aplasia of the sphenoid bone. To the best of the authors' knowledge, this is the first reported case of sphenoid wing aplasia secondary to congenital orbital myofibroma independent of neurofibromatosis 1. |
| Databáze: | OpenAIRE |
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