Hemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report)

Kabak, Şevki; Саврасова, Н. А.; Zatochnaya, V. V.; Melnichenko, Yuliya Michailovna

doi:10.3941/jrcr.v13i11.3687

Cited by 10 publications

(12 citation statements)

References 18 publications

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“…In addition, some rare syndrome diseases, such as Branchio-oto-renal syndrome (BORS) or Goldenhar syndrome, may be accompanied by branchial cleft anomalies. However, these diseases are usually autosomal dominant disorders with abnormalities in multiple organ systems [ 17 , 18 ]. For example, the typical manifestations of BORS are hearing loss, abnormal branchial cleft development, and renal dysplasia, while patients with Goldenhar syndrome usually present with the presence of congenital cholesteatoma, branchial cleft anomalies and facial nerve abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Unusual presentation of a first branchial arch fistula with maxillofacial infection: a case report

et al. 2021

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Background First branchial cleft anomaly (FBCA) is a rare congenital defect that arises due to incomplete closure of the ventral portion of the first and second branchial arches. There are variable complex clinical manifestations for patients with FBCA, which are prone to misdiagnosis and inadequate treatment. FBCAs usually involve the facial nerve with a consequent increased risk of facial nerve damage. Here, we present an unusual case of FBCA presenting with two preauricular pits in association with an abnormal maxillofacial cyst. Case presentation A 10-month-old girl presented to our department due to recurrent maxillofacial infections accompanied by swelling or abscess of the left cheek and purulent discharge from the preauricular pit for 4 months. A 3D-computed tomography (CT) fistulogram and magnetic resonance imaging (MRI) revealed two conjunctive tract lesions: one tract arose from the skin surface anteroinferior to the external auditory canal (EAC), through the deep lobe of the left parotid, and anteriorly extended to the left masseter; the other extended from the superficial lobe of the left parotid to the intertragic notch. After the maxillofacial infection was controlled by intravenous antibiotic administration, surgery was performed. Intraoperative tools, such as facial nerve monitors, microscopes, and methylene blue dyes, were used to facilitate the complete dissection and protection of the facial nerve. On follow-up over one year, the patient recovered well without facial palsy or recurrence. Conclusion FBCA with maxillofacial cysts is rare and prone to misdiagnosis. Physicians should pay attention to this anatomic variant of FBCA with the fistula track located deep inside the facial nerve and projected medially to the masseter.

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Section: Discussionmentioning

confidence: 99%

Unusual presentation of a first branchial arch fistula with maxillofacial infection: a case report

et al. 2021

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“…Table 1: Main skeletal characteristics of Individual 1437 in relation to those of the main disorders with mandibulofacial dysostosis, according to the criteria by Kabak et al, 2019;Katsanis and Jabs, 2020;Lines et al, 2020;Vincent et al, 2016 Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome) is a rare congenital craniofacial disorder. Its incidence is estimated at one live birth in fifty thousand (Gorlin et al, 2001).…”

Section: Discussionmentioning

confidence: 99%

“…The authors report no declarations of interest. Table 1: Main skeletal characteristics of Individual 1437 in relation to those of the main disorders with mandibulofacial dysostosis, according to the criteria by Kabak et al, 2019;Katsanis and Jabs, 2020;Lines et al, 2020;Vincent et al, 2016…”

Section: Declarations Of Interestmentioning

confidence: 99%

Disability in a medieval village community: A unique case of facial dysmorphism

Miclon

Bédécarrats

Laure

et al. 2021

International Journal of Paleopathology

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To identify the pathology causing the severe facial dysmorphia of a medieval individual from the site of Rigny (Indre-et-Loire, France) and to evaluate its functional repercussions on the subject's hearing and social life. MaterialsOne individual from Rigny for the osteological study, 69 individuals from the region for the Ct-Scan study and 48 individuals from the site for the isotopic analysis. MethodsMacroscopic analysis was performed using standard osteological methods. Consequences of pathology on hearing were assessed by CT-scan. Dietary behaviour was analysed by stable carbon and nitrogen isotope analysis of bone collagen. ResultsThe individual is a woman who was over 50 years of age at the time of her death with a severe form of Treacher-Collins syndrome that resulted in deafness. No osteological signs of maltreatment were observed and there is no evidence that this individual's diet was different from that of the rest of the community. ConclusionsAll information testifies to the full integration of this individual into the village population. SignificanceThis study is the first archaeological description of Treacher Collins syndrome. It shows the ability of the paleopathological approach to help identify the attitudes of societies for which written sources are most often lacking. LimitationsIn the absence of palaeogenomic analysis it is not possible to identify the origin of this case. Suggestions for further researchIncrease the paleopathological semiology by CT-scan in order to specify the consequences of pathologies and integrate isotopic analyses to enrich discussion about perceptions of disease.

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“…Depending on the extent of hypoplasia, usually in bilateral disorders, a symmetrical profound effect on the patient’s airways may require endotracheal intubation or tracheostomy [ 8 ]. In unilateral mandibular hypoplasia, the midface and cranium are typically co-affected [ 3 , 9 , 10 ]. Differentiation between symmetrical and asymmetrical deformities may have a marked impact on the therapeutic algorithm [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Congenital Mandibular Hypoplasia: Patient-Specific Total Joint Replacement as a Line Extension in the Treatment of Complex Craniofacial Anomalies

Zimmerer

Sander

Schönfeld

et al. 2022

J. Maxillofac. Oral Surg.

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Introduction Congenital mandibular hypoplasia (CMH) remains challenging because of the underlying combined hard and soft tissue deficiency. Treatment options include craniofacial distraction, orthognathic surgery, and autologous grafts, although the latter produces inadequate results after distraction and autologous grafting. Unsatisfactory long-term stability may cause relapse, necessitating reoperation. Material and Methods We investigated the feasibility of using alloplastic total joint replacement (TJR) in growing and young adult CMH patients. The primary outcome was long-term reconstruction stability, without implant failure. Secondary outcomes were TMJ function and pain, and jaw movements achieved during surgery. Results Three patients (age: 9–22 years) were treated by the same surgeon at one institution during 2018–2021. Anamnesis and clinical parameters were obtained from patient records. Preoperative 3D-scans were superimposed with postoperative 3D-scans and preoperative plans, including TJR-implant STL files, to measure jaw movement. All patients underwent prior reconstructive surgery. Mandibular movement of 16.4–20.1 mm in the sagittal direction was achieved. Post-TJR follow-up ranged from 24 to 42 months. No long-term complications occurred. At the latest follow-up, the maximal interincisal opening was between 21 and 40 mm, and all implants were functioning, without failure. Conclusion In selected CMH cases, alloplastic TJR can deliver satisfactory medium-term results with predictable and stable outcomes, even in growing patients.

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Hemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report)

Cited by 10 publications

References 18 publications

Unusual presentation of a first branchial arch fistula with maxillofacial infection: a case report

Unusual presentation of a first branchial arch fistula with maxillofacial infection: a case report

Disability in a medieval village community: A unique case of facial dysmorphism

Congenital Mandibular Hypoplasia: Patient-Specific Total Joint Replacement as a Line Extension in the Treatment of Complex Craniofacial Anomalies

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