Lapunzina P, Fernández M C, Varela Junquera J M, Arberas C, Tello A M, Gracia Bouthelier R
Laboratorio de Biología Molecular, Hospital Universitario La Paz, Madrid, Spain.
An Esp Pediatr. 2002 Apr;56(4):342-6.
Crouzon's syndrome is a complex craniosynostosis disorder due to mutations in fibroblast growth factor receptor (FGFR) type 2. We report a female patient with Crouzon's syndrome associated with acanthosis nigricans. The molecular abnormality in this patient is a point mutation (Ala391Glu) in the transmembrane domain of another FGFR (type 3), which is very close to the mutation (Gly380Arg) most frequently observed in achondroplasia. Acanthosis nigricans is an emerging disorder. Its clinical features and molecular findings differ from those of isolated Crouzon's syndrome. These data are very useful when molecular tests are required for prenatal diagnosis.
克鲁宗综合征是一种由于成纤维细胞生长因子受体2（FGFR2）突变引起的复杂的颅缝早闭症。我们报告了一名患有克鲁宗综合征并伴有黑棘皮病的女性患者。该患者的分子异常是另一种FGFR（3型）跨膜结构域中的一个点突变（Ala391Glu），这与软骨发育不全中最常观察到的突变（Gly380Arg）非常接近。黑棘皮病是一种新出现的疾病。其临床特征和分子发现与孤立性克鲁宗综合征不同。当需要进行产前诊断的分子检测时，这些数据非常有用。
