PDF(Pubmed)
Abstract：
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.
METHODS: 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.
METHODS: 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.
摘要：
背景：耳突髁综合征（ARCND）是一种极为罕见的常染色体显性或隐性疾病，通常表现为问号耳（QME），下颌髁突发育不全,和小颌畸形。严重的牙齿和颌面部畸形对患者的生活和临床治疗提出了相当大的挑战。目前,世界上只有少数ARCND病例报告，但大多数与基因突变有关,临床症状,和耳朵矫正；关于治疗牙面畸形的报道很少。
方法：这里，我们报告了一个中国家庭中罕见的ARCND病例。使用全外显子组测序在患者及其兄弟中鉴定了鸟嘌呤核苷酸结合蛋白α抑制活性多肽3（GNAI3）中的新插入突变。经过多学科的咨询和检查，序贯正畸治疗和颅面手术，包括牵张成骨和正颌手术，使用三维（3D）数字技术治疗患者的牙颌面畸形。5年随访时预后良好,病人恢复正常生活.
结论：ARCND是一种单基因且罕见的疾病，可以根据其核心特征的临床三联征进行诊断。分子诊断在临床特征不明显的患者的诊断中起着至关重要的作用。我们在GNAI3中提出了一个新的插入变异，该变异在中国家庭的110116384号染色体的外显子2中被鉴定。在3D数字技术指导下，术前正畸治疗结合牵张成骨和正颌手术的序贯治疗可能是治疗ARCND的一种实用有效的方法。
方法：这里，我们报告了一个中国家庭中罕见的ARCND病例。使用全外显子组测序在患者及其兄弟中鉴定了鸟嘌呤核苷酸结合蛋白α抑制活性多肽3（GNAI3）中的新插入突变。经过多学科的咨询和检查，序贯正畸治疗和颅面手术，包括牵张成骨和正颌手术，使用三维（3D）数字技术治疗患者的牙颌面畸形。5年随访时预后良好,病人恢复正常生活.
结论：ARCND是一种单基因且罕见的疾病，可以根据其核心特征的临床三联征进行诊断。分子诊断在临床特征不明显的患者的诊断中起着至关重要的作用。我们在GNAI3中提出了一个新的插入变异，该变异在中国家庭的110116384号染色体的外显子2中被鉴定。在3D数字技术指导下，术前正畸治疗结合牵张成骨和正颌手术的序贯治疗可能是治疗ARCND的一种实用有效的方法。
