Crouzon syndrome is a rare form of syndromic craniosynostosis (SC) characterized by premature fusion of the cranial and facial sutures, elevated intracranial pressure, varying degrees of ocular exposure due to exorbitism, and airway compromise caused by midface retrusion. Craniolacunae and upper and lower extremity anomalies are not frequently found in Crouzon syndrome. We present a girl with Crouzon syndrome caused by c.1040 C > G, p.Ser347Cys, a pathogenic mutation in the FGFR2 gene with atypical characteristics, including craniolacunae resembling severe Swiss cheese type of bone formation, and upper and lower extremity anomalies which are more commonly associated with Pfeiffer syndrome patients. Distinguishing between severe Crouzon syndrome patients and patients who have mild and/or moderate Pfeiffer syndrome can be challenging even for an experienced craniofacial surgeon. An accurate genotype diagnosis is essential to distinguishing between these syndromes, as it provides predictors for neurosurgical complications and facilitates appropriate family counseling related to long-term outcomes.

Crouzon 综合征是一种罕见的综合征性颅缝早闭 (SC)，其特征是颅面和面部缝合线过早融合、颅内压升高、由于外倾导致的不同程度的眼部暴露以及中面后缩引起的气道损害。在 Crouzon 综合征中不常见颅腔和上肢和下肢异常。我们介绍了一个由 c.1040 C > G, p.Ser347Cys 引起的患有 Crouzon 综合征的女孩，这是一种具有非典型特征的 FGFR2 基因的致病性突变，包括类似于严重瑞士奶酪型骨形成的颅腔，以及上肢和下肢异常。更常见于 Pfeiffer 综合征患者。即使对于经验丰富的颅面外科医生来说，区分严重的 Crouzon 综合征患者和患有轻度和/或中度 Pfeiffer 综合征的患者也可能具有挑战性。准确的基因型诊断对于区分这些综合征至关重要，因为它可以预测神经外科并发症并促进与长期结果相关的适当家庭咨询。