Clinical and Radiological Evaluation of Franceschetti Syndrome (Treacher Collins Syndrome): A Rare Case Report

Autor: Shalu Rai, Kuber Tyagi, Deepankar Misra, Mansi Khatri, Prerna Jain
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: MAMC Journal of Medical Sciences, Vol 4, Iss 2, Pp 96-99 (2018)
Druh dokumentu: article
ISSN: 2394-7438
DOI: 10.4103/mamcjms.mamcjms_59_17
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.
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