Craniofacial Distraction Osteogenesis

Burns, Heather R.; Wang, Daniel S.; Abu-Ghname, Amjed; Dempsey, Robert F.

doi:10.1055/s-0043-1776298

Cited by 2 publications

(1 citation statement)

References 93 publications

(220 reference statements)

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“…In addition, we observed that vertical and sagittal mandibular dysplasia contributed to airway narrowing and chin retraction. With the help of preoperative virtual design technology, we were able to execute osteotomy precisely with surgical guides and accurately design the number and position of the distraction hardware [ 27 ]. Possible issues during the distraction period can also be simulated and predicted in advance [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report

Shi,

Rong,

Liu

et al. 2024

BMC Oral Health

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Background Auriculocondylar syndrome (ARCND) is an extremely rare autosomal dominant or recessive condition that typically manifests as question mark ears (QMEs), mandibular condyle hypoplasia, and micrognathia. Severe dental and maxillofacial malformations present considerable challenges in patients’ lives and clinical treatment. Currently, only a few ARCND cases have been reported worldwide, but most of them are related to genetic mutations, clinical symptoms, and ear correction; there are few reports concerning the treatment of dentofacial deformities. Case presentation Here, we report a rare case of ARCND in a Chinese family. A novel insertional mutation in the guanine nucleotide-binding protein alpha-inhibiting activity polypeptide 3 (GNAI3) was identified in the patient and their brother using whole-exome sequencing. After a multidisciplinary consultation and examination, sequential orthodontic treatment and craniofacial surgery, including distraction osteogenesis and orthognathic surgery, were performed using three-dimensional (3D) digital technology to treat the patient’s dentofacial deformity. A good prognosis was achieved at the 5-year follow-up, and the patient returned to normal life. Conclusions ARCND is a monogenic and rare condition that can be diagnosed based on its clinical triad of core features. Molecular diagnosis plays a crucial role in the diagnosis of patients with inconspicuous clinical features. We present a novel insertion variation in GNAI3, which was identified in exon 2 of chromosome 110116384 in a Chinese family. Sequential therapy with preoperative orthodontic treatment combined with distraction osteogenesis and orthognathic surgery guided by 3D digital technology may be a practical and effective method for treating ARCND.

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Section: Discussionmentioning

confidence: 99%

Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report

Shi,

Rong,

Liu

et al. 2024

BMC Oral Health

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Novel GNAI3 mutation in a Chinese auriculocondylar syndrome family and treatment of severe dentofacial deformities: A 5-years follow-up case report

Shi,

Rong,

Liu

et al. 2024

Preprint

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Background Auriculocondylar syndrome (ARCND) is an extremely rare autosomal dominant or recessive condition and the typical triad manifestations of ARCND are question mark ears (QMEs), mandibular condyle hypoplasia, and micrognathia. This severe dental and maxillofacial malformations have caused great trouble to patient’s life and clinical treatment. Now only a few ARCND cases are reported in the world, but most of them are about genetic mutations, clinical symptoms, and ear correction, reports concerning treatment of dentofacial deformity are few. Case presentation We here present a rare Chinese family case with ARCND. A novel insertional mutation in guanine nucleotide-binding protein alpha-inhibiting activity polypeptide 3 (GNAI3) was identified in the patient and the patient’s brother by whole-exome sequencing. After multidisciplinary consultation and examination, sequential orthodontic treatment and craniofacial surgery including distraction osteogenesis (DO) and orthognathic surgery were performed with the aid of three-dimensional (3D) digital technology to treat the patient’s dentofacial deformity. A good prognosis was achieved in 5-years follow-up, and the patient returned to normal life. Conclusion ARCND is a monogenic and rare condition, it could be diagnosed by its clinical triad core features. Molecular diagnosis plays a crucial role in patients who has unconspicuous clinical features. We present a novel insertion variation of GNAI3 which was identified in exon 2 of chromosome 110116384 in a Chinese family. The sequential therapy of preoperative orthodontic treatment combined with DO and orthognathic surgery guided by 3D digital technology could be a practical and effective method to treat ACSND.

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Craniofacial Distraction Osteogenesis

Cited by 2 publications

References 93 publications

Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report

Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report

Novel GNAI3 mutation in a Chinese auriculocondylar syndrome family and treatment of severe dentofacial deformities: A 5-years follow-up case report

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