Modified Le Fort I Osteotomy and Genioplasty for Management of Severe Dentofacial Deformity in β-Thalassaemia Major: Case report and review of the literature

Abstract

β-thalassaemia major is an autosomal recessive form of haemoglobinopathy that is characterised by complete lack of production of the β-chains resulting in multiple complications that include severe anaemia, failure to thrive and skeletal abnormalities. Facial deformities induced by β-thalassaemia major are rare and are very challenging to treat from a surgical point of view. We report a 33-year-old female patient with β-thalassaemia major who presented to the Dental & Maxillofacial Surgery Department, Sultan Qaboos University Hospital, Muscat, Oman, in 2017 with gross dentofacial skeletal deformity contributing to her psychosocial issues. The facial deformity was corrected surgically by excision of the enlarged maxilla, modified Le Fort I osteotomy and advancement genioplasty. This case highlights the pre-operative preparation, surgical management, encountered complications and treatment outcome within 24 months of follow-up.

Keywords: Beta-Thalassaemia; Case Report; Cooley’s Anemia; Dentofacial Deformities; Genioplasty; Le Fort Osteotomy; Oman; Thalassaemia Major.

Figure 1

Pre-operative clinical photographs and radiographic images of a 33-year-old female patient with β-thalassaemia showing (A) frontal and (B) lateral views showing lip incompetence, excessive teeth showing and maxillary enlargement. Orthopantogram showing (C) left maxillary enlargement with obliteration of the maxillary sinuses and over-eruption of left maxillary teeth. Lateral cephalogram showing (D) severe proclination of the upper and lower anterior teeth, increased overjet and moderate retrogenia.

Figure 2

Pre-operative cone beam computed tomography of the head of a 33-year-old female patient with β-thalassaemia showing (A) 3-dimensional reconstruction scan showing extensive left maxillary mass with lack of bony cortex. Coronal (B) and axial (C) cuts demonstrating left maxillary medullary expansion with overlapping downward overgrowth of the left maxilla and obliteration of the maxillary sinuses.

Figure 3

Intra-operative surgical photographs of a 33-year-old female patient with β-thalassaemia showing the intraoral view showing a hypertrophied left maxillary bony mass, excised hypertrophied left maxillary mass and fixation and stabilisation of modified Le Fort osteotomy with multiple mini-plates.

Figure 4

Post-operative (24 months) clinical photographs and radiographic images of a 33-year-old female patient with β-thalassaemia showing the (A) frontal and (B) lateral views showing a pleased patient with satisfactory facial profile. Intra-oral view showing (C) stable occlusion with symmetrical and harmonised maxillary buccal buttress. Orthopantogram showing (D) stable occlusion with plates used for mandibular and maxillary osteotomy procedure and (E) a lateral cephalogram showing satisfactory chin position and lateral profile.