Zeppieri Marco, Karsonovich Torin, Patel Bhupendra C.
University Hospital of Udine, Italy
Baylor College of Medicine
Crouzon syndrome is a genetically inherited disorder characterized by multiple suture craniosynostosis (premature fusion of the coronal sutures), leading to skull and facial deformities. This condition was first described in 1912 by French physician Octave Crouzon, who identified both a mother and daughter with what was originally termed "craniofacial dysostosis." He described a triad of skull deformities, facial anomalies, and proptosis, which was later relabeled as "Crouzon syndrome" (see Crouzon Syndrome in a Patient Exhibiting Craniofacial Deformities). Crouzon syndrome is a congenital disorder inherited in an autosomal dominant pattern. This syndromic condition exhibits complete penetrance but variable expressivity, meaning symptom severity varies among individuals. Craniosynostosis is the distinguishing feature of Crouzon syndrome, which typically affects the coronal sutures, although other sutures may also be involved. Premature suture closure disrupts the balance between intracranial pressure and cranial vault development, leading to compensatory growth of unaffected sutures. This results in a brachycephalic cranium shape, midface hypoplasia, shallow orbits, and maxillary hypoplasia. The underdevelopment of the maxilla and zygomatic arches causes midface hypoplasia, a defining characteristic of Crouzon syndrome. This anomaly leads to aesthetic concerns and contributes to functional impairments, such as malocclusion and upper airway obstruction. Proptosis, hypertelorism, and vision impairment result from orbital dysmorphology, which leads to exposure keratopathy and optic atrophy. Progressive craniofacial dysmorphism and complications, including developmental delays, obstructive sleep apnea, and elevated intracranial pressure, are characteristic of untreated Crouzon syndrome. Early surgical interventions are essential to manage the condition, enhance quality of life, and prevent complications. A multidisciplinary approach involving physicians, geneticists, ophthalmologists, neurosurgeons, and plastic craniofacial surgeons is crucial to addressing the diverse clinical manifestations. The diagnosis of Crouzon syndrome is predominantly clinical, with genetic testing and radiological imaging providing additional support.
克鲁宗综合征是一种遗传性疾病，其特征为多条颅缝早闭（冠状缝过早融合），导致颅骨和面部畸形。这种病症于1912年由法国医生奥克塔夫·克鲁宗首次描述，他发现一位母亲和女儿患有最初被称为“颅面骨发育不全”的疾病。他描述了颅骨畸形、面部异常和眼球突出三联征，后来该病症被重新命名为“克鲁宗综合征”（见《一名患有颅面畸形患者的克鲁宗综合征》）。克鲁宗综合征是一种以常染色体显性模式遗传的先天性疾病。这种综合征具有完全外显率但表现度可变，这意味着个体之间症状严重程度有所不同。颅缝早闭是克鲁宗综合征的显著特征，通常影响冠状缝，不过其他颅缝也可能受累。过早的颅缝闭合破坏了颅内压与颅腔发育之间的平衡，导致未受影响的颅缝代偿性生长。这会导致短头畸形的颅骨形状、面中部发育不全、眼眶浅以及上颌骨发育不全。上颌骨和颧弓发育不全导致面中部发育不全，这是克鲁宗综合征的一个典型特征。这种异常会引发美学问题，并导致功能障碍，如错颌畸形和上呼吸道阻塞。眼球突出、眼距过宽和视力障碍是由眼眶形态异常导致的，进而引起暴露性角膜病变和视神经萎缩。未经治疗的克鲁宗综合征的特征是进行性颅面畸形和并发症，包括发育迟缓、阻塞性睡眠呼吸暂停和颅内压升高。早期手术干预对于控制病情、提高生活质量和预防并发症至关重要。涉及内科医生、遗传学家、眼科医生、神经外科医生和整形颅面外科医生的多学科方法对于应对各种临床表现至关重要。克鲁宗综合征的诊断主要基于临床，基因检测和影像学检查可提供额外支持。
