Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E
Service de Neurochirurgie, Hôpital Necker-Enfants Malades, Paris, France.
J Neurosurg. 2000 Apr;92(4):631-6. doi: 10.3171/jns.2000.92.4.0631.
A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this mutation was present, to determine the prevalence of the condition, and to assess the functional and the morphological outcome of the surgically treated patients.
A DNA analysis was performed in 103 children suffering from apparently isolated coronal synostosis, 41 of whom had bilateral and 62 of whom had unilateral disease. There were 31 boys and 72 girls in the study group. Sixty cases were sporadic and 43 were familial; the 43 familial cases arose in 33 unrelated families. The mutation was found in seven (12%) of 60 sporadic cases and in 24 (73%) of the 33 families. The functional and morphological results were assessed in all surgically treated patients who had at least 1 year of follow up and who were at least 3 years of age at the time of assessment. A comparison was made between patients with the mutation and those without.
The most typical presentation was seen in girls and consisted of a bicoronal synostosis resulting in a severe brachycephaly associated with mild hypertelorism and marked bulging of the temporal fossae, which resulted in a huge enlargement of the upper part of the face. The most frequently associated extracranial anomaly was brachydactyly, identified either clinically or radiologically. Based on the proportion of bilateral and unilateral coronal synostoses, the present data indicate that the mutation is associated with more severe cases and that girls with the mutation are more severely affected than boys. The functional and morphological results were worse in patients in whom the mutation was present as compared with those in whom it was not.
最近有报道称，在明显非综合征性冠状缝早闭病例中，成纤维细胞生长因子受体3基因发生复发性点突变，导致脯氨酸250转变为精氨酸。本研究的目的是检查存在该突变的患者的表型，确定该病症的患病率，并评估手术治疗患者的功能和形态学结果。
对103例明显孤立性冠状缝早闭的儿童进行了DNA分析，其中41例为双侧病变，62例为单侧病变。研究组中有31名男孩和72名女孩。60例为散发性，43例为家族性；43例家族性病例出现在33个无亲缘关系的家庭中。在60例散发性病例中有7例（12%）发现该突变，在33个家庭中的24例（73%）发现该突变。对所有接受手术治疗且至少随访1年、评估时至少3岁的患者的功能和形态学结果进行了评估。对有突变的患者和无突变的患者进行了比较。
最典型的表现见于女孩，表现为双冠状缝早闭，导致严重短头畸形，伴有轻度眼距增宽和颞窝明显膨隆，从而导致面部上部巨大增大。最常伴发的颅外异常是短指畸形，可通过临床或放射学检查发现。根据双侧和单侧冠状缝早闭的比例，目前的数据表明该突变与更严重的病例相关，且有该突变的女孩比男孩受影响更严重。与无突变的患者相比，有突变的患者的功能和形态学结果更差。
