Jirapinyo Chutima, Deraje Vybhav, Huang Gwendolyn, Gue Sam, Anderson Peter J, Moore Mark H
Australian Craniofacial Unit.
Department of Paediatric Dentistry, Women's and Children's Hospital.
J Craniofac Surg. 2020 Jun;31(4):908-911. doi: 10.1097/SCS.0000000000006306.
Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder caused by mutations in the Runx2 gene. The CCD is characterized by frontal bossing, a patent anterior fontanelle, presence of Wormian bones, midface hypoplasia, multiple dental abnormalities, clavicular hypoplasia or aplasia, skeletal abnormalities, and short stature. The aims of this study are to report the phenotypic manifestations of all patients who presented with CCD and to review the multidisciplinary management of these patients. The longitudinal data of patients with a diagnosis of CCD treated at The Australian Craniofacial Unit from 1980 to 2019 were reviewed. Fourteen patients were identified for inclusion in this study. The age at referral to the unit ranged from 1 week old to 49 years old (mean 11.2 years old). All patients had clinical features of frontal bossing, a patent anterior fontanelle, multiple Wormian bones, midface hypoplasia, abnormal dentition, clavicular hypoplasia/aplasia, and normal intellect. Eleven patients had obstructive sleep apnea. Eight patients had positive family history. Speech issues were found in 6 patients and abnormal hearing was found in 4 patients. Seven patients who underwent skeletal survey were found to have skeletal abnormalities. All patients were evaluated and managed by the multidisciplinary team, which consisted of craniofacial surgeons, pediatric dentists, orthodontists, ENT surgeons, pediatricians, clinical geneticists, radiologists, orthopedic surgeons, and social workers. All patients were treated by dentists/orthodontists requiring multiple surgical interventions and orthodontic treatment. Seven patients who had recurrent ear infection underwent ventilation tube insertion. Seven of 11 patients who had obstructive sleep apnea underwent adenotonsillectomy. Four patients underwent orthognathic surgery to correct midface hypoplasia and malocclusion. Two patients had cranioplasty for correction of metopic depressions. The characteristic findings of patients with CCD involving multiple regions of the body should draw clinicians' attention to the need for multidisciplinary management of these patients.
锁骨颅骨发育不全（CCD）是一种由Runx2基因突变引起的罕见常染色体显性疾病。CCD的特征包括前额突出、前囟未闭、存在缝间骨、面中部发育不全、多种牙齿异常、锁骨发育不全或缺失、骨骼异常和身材矮小。本研究的目的是报告所有患有CCD患者的表型表现，并回顾这些患者的多学科管理情况。回顾了1980年至2019年在澳大利亚颅面科接受治疗的确诊为CCD患者的纵向数据。确定了14名患者纳入本研究。转诊至该科室时的年龄范围为1周龄至49岁（平均11.2岁）。所有患者均有前额突出、前囟未闭、多处缝间骨、面中部发育不全、牙列异常、锁骨发育不全/缺失以及智力正常的临床特征。11名患者患有阻塞性睡眠呼吸暂停。8名患者有阳性家族史。6名患者存在言语问题，4名患者听力异常。7名接受骨骼检查的患者被发现有骨骼异常。所有患者均由多学科团队进行评估和管理，该团队由颅面外科医生、儿童牙医、正畸医生、耳鼻喉科外科医生、儿科医生、临床遗传学家、放射科医生、骨科医生和社会工作者组成。所有患者均接受了牙医/正畸医生的治疗，需要多次手术干预和正畸治疗。7名患有复发性耳部感染的患者接受了通气管插入术。11名患有阻塞性睡眠呼吸暂停的患者中有7名接受了腺样体扁桃体切除术。4名患者接受了正颌手术以纠正面中部发育不全和错牙合畸形。2名患者进行了颅骨成形术以纠正额缝凹陷。CCD患者涉及身体多个部位的特征性表现应引起临床医生对这些患者进行多学科管理的重视。
