Skeletal facial deformity in patients with β thalassemia major: Report of one Tunisian case and a review of the literature

Bouguila, J.; Besbes, G.; Khochtali, H.

doi:10.1016/j.ijporl.2015.08.037

Cited by 14 publications

(22 citation statements)

References 16 publications

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“…Craniofacial and skeletal abnormalities due to the enlargement of the marrow spaces are described as a direct result of ineffective erythropoiesis and therefore of the compensatory bone marrow hyperplasia, craniofacial bones result inevitably affected [23,24]. As a result, the significant expansion of bone marrow, by stimulating an increase in the number of osteoclasts, results in osteopenia, bone desorption, cortical thinning, reduced mineralization and sites of bone formation reduction [25].…”

Section: Discussionmentioning

confidence: 99%

Radiological and clinical difficulties in the management of chronic maxillary sinusitis in β Thalassemic paediatric patients

Mauro

Greco

Melis

et al. 2016

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 99%

Radiological and clinical difficulties in the management of chronic maxillary sinusitis in β Thalassemic paediatric patients

Mauro

Greco

Melis

et al. 2016

International Journal of Pediatric Otorhinolaryngology

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“…The mandible undergoes less changes than the maxilla and usually results in a retrognathic facial appearance. 6,9,14,16 The dentition appears displaced as a consequence of the maxillary expansion and accordingly, results in dental malocclusion and functional difficulties during eating, swallowing and speech. 9 Iron over-load is a common complication in β-thalassaemia major patients.…”

Section: Case Reportmentioning

confidence: 99%

“…[8][9][10] There are few published reports addressing facial deformity in this group which included cases of thalassaemia intermedia. 3,8,9,16 The suggested treatment includes surgical reduction of the enlarged maxillary bone and/or surgical jaw correction with or without associated orthodontic treatment. [8][9][10]16 Re-contouring the enlarged maxillary bone was a highly suggested treatment option, however, most reports were based on thalassaemia intermedia cases.…”

Section: Case Reportmentioning

confidence: 99%

“…3,8,9,16 The suggested treatment includes surgical reduction of the enlarged maxillary bone and/or surgical jaw correction with or without associated orthodontic treatment. [8][9][10]16 Re-contouring the enlarged maxillary bone was a highly suggested treatment option, however, most reports were based on thalassaemia intermedia cases. 1,5,8 Mortazavi and Khojasteh reported performing surgical re-contouring of the enlarged maxilla with dental clearance of maxillary teeth to facilitate the insertion of dental prosthesis thus, correcting the skeletal and dental deformities.…”

Section: Case Reportmentioning

confidence: 99%

“…8 The most commonly reported surgical form of management of the β-thalassaemia-induced facial deformity is surgical re-contouring along with either segmental osteotomy or a Le Fort I osteotomy. [8][9][10]16,21,22 Segmental osteotomy is more frequently used for vertical and sagittal repositioning of the premaxilla in the inter-canine area after extraction of the bilateral canines or first premolars to produce a reasonable occlusal relationship and facial harmony. 8,23 Le Fort I osteotomy is less frequently reported in the literature compared to segmental osteotomy and purposely used for superior and posterior repositioning of the enlarged maxilla.…”

Section: Case Reportmentioning

confidence: 99%

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

Hasani

Bakathir

Al-Hashmi

et al. 2020

Sultan Qaboos Univ Med J

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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; Thalassaemia Major; Cooley's Anemia; Le Fort Osteotomy; Genioplasty; Dentofacial Deformities; Case Report; Oman.

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Thalassemia major in a 49‐year‐old Thai female: Gross and X‐ray examination of dry bone

Techataweewan

Mann

Vlok

et al. 2021

Intl J of Osteoarchaeology

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Objective: We present a clinically diagnosed case of beta thalassemia major in a deceased 49-year-old Thai female for comparison with paleopathological cases and consideration of age-related changes of anemic skeletal lesions.Methods: Dry bone and radiographic descriptions of pathological changes are provided and compared to clinically documented features of thalassemia. Results:The limb bones in this case exhibit extreme "ballooning" (widening), cortical rarefaction (cortex thinning due to osteoporosis), and varus deformity of the proximal humeri. In the cranium, reduction and coarsening of the trabeculae due to marrow hyperplasia, and radiographic "hair-on-end" appearance are evident. This individual did not present with severe porotic hyperostosis or cribra orbitalia but exhibited diploic expansion.Significance: This case study provides a rare opportunity for a detailed examination of the bone changes present in a fatal homozygote with severe anemia. The case also enables discussion of thalassemia in the wider Southeast Asian context, as major gene variations are known to impact bone metabolism and possibly cause the development of macroscopically observable traits. The absence of observable cribra orbitalia or severe porotic hyperostosis in such an extreme case calls for careful consideration of age-related skeletal changes in the diagnosis of genetic anemias (and anemia in general).Limitations: The individual received blood transfusion treatment that likely prolonged her life-impacting skeletal progression.Suggestions for future research: Descriptions of different anatomical cases of thalassemia, particularly when accompanied with detailed clinical documentation, would further enable the development of more rigorous diagnostic protocols that accommodate skeletal variation in disease expression.

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Skeletal facial deformity in patients with β thalassemia major: Report of one Tunisian case and a review of the literature

Cited by 14 publications

References 16 publications

Radiological and clinical difficulties in the management of chronic maxillary sinusitis in β Thalassemic paediatric patients

Radiological and clinical difficulties in the management of chronic maxillary sinusitis in β Thalassemic paediatric patients

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

Thalassemia major in a 49‐year‐old Thai female: Gross and X‐ray examination of dry bone

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