Clinical and Radiological Evaluation of Franceschetti Syndrome (Treacher Collins Syndrome): A Rare Case Report
| Autor: | Deepankar Misra, Mansi Khatri, P. C. Jain, Shalu Rai, Kuber Tyagi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
treacher collins syndrome
Coloboma medicine.medical_specialty business.industry lcsh:R franceschetti syndrome lcsh:Medicine medicine.disease Dermatology Hypoplasia medicine.anatomical_structure Franceschetti syndrome Radiological weapon Rare case medicine Coloboma sign Craniofacial business Treacher Collins syndrome Nose |
| Zdroj: | MAMC Journal of Medical Sciences, Vol 4, Iss 2, Pp 96-99 (2018) |
| ISSN: | 2394-7438 |
| Popis: | Franceschetti Syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It affects structures which are derivatives of the first and second brachial arches. It has a characteristic facial appearance as a result of hypoplasia of facial bones, accompanied by ear, eye and nose abnormalities and positive coloboma sign. This article describes clinical and radiographic features of this syndrome in a 22 year old male who reported to our department with the complaint of pain in his left upper back and right lower back tooth region showing incomplete clinical form of Franceschetti syndrome. Also pathogenesis, diagnosis, prevention, management are discussed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|