Treacher Collins syndrome in a cuban family. Case presentation
Abstract
Introduction: Treacher Collins syndrome is a genetic disorder of craniofacial development, characterized by a bilateral symmetrical otomandibular dysplasia associated with various abnormalities of the head and neck, with no extremities affection. Its clinical expression is very variable, with a range of occurrence between 1 in 25,000 and 1 in 70,000 live births. Only were found two cases after a review of national published literature, one in 1962 and the other one in 2007; no report of incidence on Cuban families was found.Objective: To present a case study of a Cuban family with Treacher Collins syndrome.
Case presentation: Male patient 22 year old with father and sister afflicted with Treacher Collins syndrome, arriving to a consulting room seeking for an aesthetic treatment. After physical examination was confirm a typical facial dimorphism consisting of: downward slant palpebral fissures, microphthalmia, orbital edge depression, hypoplasia and ears low implantation, micrognathia, facial soft tissue hypoplasia and absence of eyelashes in the inferior lids external third. Patient extremities, weight and mouth opening showed no abnormalities. These malformations were confirmed by means of a computerized tomography, also was detected an intrasellar arachnoidocele, and lack of pneumatization of mastoid and sphenoid sinus cells. Abdominal ultrasound, echocardiogram, chest and antero-posterior spine radiography were normal.
Conclusions: Although the Treacher Collins syndrome is a rare congenital disease, it is important to know it in order to make a correct and early diagnosis, bringing to the patient an opportune and multidisciplinary treatment.
Keywords: Treacher Collins syndrome, Franceschetti -Zwahlen-Klein syndrome, Mandibulo-facial dysostosis, craniofacial anomalies, treacle, TCOF-1.
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References
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