title: Skeletal facial deformity in patients with β thalassemia major: Report of one Tunisian case and a review of the literature.
abstract: β Thalassemia is an inherited genetic disorder of hemoglobin synthesis characterized by a reduction of β chains of globin. Typical features of patients with β thalassemia are skeletal modifications, particularly in the skull and in the facial bones. In thalassemia major, involvement of the facial skeleton can result in severe disfigurement, often referred to as "rodent facies". Various surgical approaches to correct the facial deformity have been advocated; however, treatment remains controversial. The worse the patient's systemic condition, the more unstable and more complicated the surgical procedure. Patient with multisystemic disorder and severe deformity, such as in our case, with a complete lack of cortical bone for bone fixation, might not be amenable to such procedures. Thorough knowledge of the multiple systemic manifestations, therapy, and prognosis of this syndrome is necessary to formulate a safe, comprehensive surgical plan for these patients.
authors.affiliation: Department of ENT, Maxillofacial and Aesthetic Surgery, La Rabta University Hospital, Tunis, Tunisia; Department of Maxillofacial, Plastic and Aesthetic Surgery, Sahloul University Hospital, Sousse, Tunisia; Laboratory of Oral Health and Facial Rehabilitation, Mounastir University, Tunisia. Electronic address: bouguila_jed@yahoo.fr.
authors.forename: Jed
authors.initials: J
authors.lastname: Bouguila
authors.affiliation: Department of ENT, Maxillofacial and Aesthetic Surgery, La Rabta University Hospital, Tunis, Tunisia.
authors.forename: Ghazi
authors.initials: G
authors.lastname: Besbes
authors.affiliation: Department of Maxillofacial, Plastic and Aesthetic Surgery, Sahloul University Hospital, Sousse, Tunisia; Laboratory of Oral Health and Facial Rehabilitation, Mounastir University, Tunisia.
authors.forename: Habib
authors.initials: H
authors.lastname: Khochtali
mesh_terms: D000328:Adult; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D019066:Facies; D005260:Female; D006801:Humans; D011859:Radiography; D014416:Tunisia; D017086:beta-Thalassemia / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*
keywords: Bone; Deformity; Face; Surgery; Thalassemia major