伴有黑棘皮病和牙源性肿瘤的克鲁宗综合征：一种罕见的综合征性颅缝早闭形式。
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.
作者信息
Xu Wen, McDonald-McGinn Donna M, Melchiorre Alexandra J, Zackai Elaine H, Bartlett Scott P, Taylor Jesse A
机构信息
1 Division of Plastic Surgery, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
2 Division of Plastic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
出版信息
Cleft Palate Craniofac J. 2018 Feb;55(2):296-300. doi: 10.1177/1055665617723918. Epub 2017 Dec 14.
Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided.
伴有黑棘皮病的克鲁宗综合征（CAN）由成纤维细胞生长因子受体（FGFR）3基因突变引起，临床特征为类克鲁宗颅面特征，并伴有其他异常，如黑棘皮病和良性牙源性肿瘤。通过基因变异分析进行诊断至关重要，因为这能提醒外科医生需要仔细筛查颌骨肿瘤，以便能及时采取刮除术或节段性切除术等治疗方式。
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