Sauerhammer Tina M, Patel Kamlesh, Oh Albert K, Proctor Mark R, Mulliken John B, Rogers Gary F
From the Departments of *Plastic and Reconstructive Surgery, and †Neurosurgery, Boston Children's Hospital, Boston, MA.
J Craniofac Surg. 2014 Mar;25(2):437-40. doi: 10.1097/01.scs.0000436674.59196.cd.
Most types of craniosynostosis cause predictable changes in cranial shape. However, the phenotype of combined metopic and unilateral coronal synostoses is anomalous. The purpose of this observational study was to better clarify the clinical and radiographic features of this rare entity.
A retrospective review of a craniofacial database was performed. Patients with combined metopic and unilateral coronal synostoses were included in this study. Data collected included demographic information, physical and radiographic findings, genetic evaluation, treatment, and operative outcomes.
Of 687 patients treated between 1989 and 2010, only 3 patients had combined metopic and unilateral coronal synostoses. All patients were diagnosed through computed tomography on the first day of life. Phenotypic features included the following: (1) narrowed forehead with a prominent midline ridge, (2) severe bilateral brow retrusion with an acute indentation on the side of the patient coronal suture, (3) facial and nasal angulation similar to isolated unilateral coronal synostosis, and (4) anterior displacement of the ear on the fused side. In addition, the cranial vertex was deviated toward the side of the open coronal suture. Two patients had a head circumference below the 25th percentile; 2 of the 3 had a TWIST gene mutation consistent with Saethre-Chotzen syndrome. One patient was managed through fronto-orbital advancement and required a revision. The other 2 patients had early endoscopic release, followed by postoperative helmet therapy; one improved but still required open cranial remodeling. The other has near-normal phenotype, and no further surgery is planned.
Combined metopic and unilateral coronal synostoses present a rare and unusual phenotype. Although early intervention improves the deformity, revisional procedures are usually required.
大多数类型的颅缝早闭会导致颅骨形状出现可预测的变化。然而，额缝与单侧冠状缝联合早闭的表型却不规则。本观察性研究的目的是更清晰地阐明这种罕见病症的临床和影像学特征。
对颅面数据库进行回顾性研究。本研究纳入了额缝与单侧冠状缝联合早闭的患者。收集的数据包括人口统计学信息、体格检查和影像学检查结果、基因评估、治疗方法及手术效果。
在1989年至2010年接受治疗的687例患者中，仅有3例为额缝与单侧冠状缝联合早闭。所有患者在出生首日通过计算机断层扫描确诊。表型特征如下：（1）前额变窄，中线嵴突出；（2）双侧眉部严重后缩，患侧冠状缝处有锐角凹陷；（3）面部及鼻部角度与孤立性单侧冠状缝早闭相似；（4）融合侧耳部向前移位。此外，颅顶向开放冠状缝一侧偏移。2例患者头围低于第25百分位数；3例中有2例存在与塞特雷 - 乔岑综合征一致的TWIST基因突变。1例患者接受了额眶前移手术，术后需要进行修复。另外2例患者早期接受了内镜下松解术，术后进行头盔治疗；1例有所改善，但仍需进行开放性颅骨重塑手术。另1例患者的表型接近正常，暂无进一步手术计划。
额缝与单侧冠状缝联合早闭呈现出一种罕见且异常的表型。尽管早期干预可改善畸形，但通常仍需要进行修复手术。
