Gripp K W, McDonald-McGinn D M, Gaudenz K, Whitaker L A, Bartlett S P, Glat P M, Cassileth L B, Mayro R, Zackai E H, Muenke M
Children's Hospital of Philadelphia, PA 19104-4399, USA.
J Pediatr. 1998 Apr;132(4):714-6. doi: 10.1016/s0022-3476(98)70366-x.
To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. Of 37 patients with unicoronal synostosis, 4 tested positive for the Pro250Arg mutation in FGFR3, and 33 were negative for this mutation. In three mutation positive patients with full parental studies, a parent with an extremely mild phenotype was found to carry the same mutation. None of the 6 patients with nonsynostotic plagiocephaly and none of the 4 patients with additional suture synostosis had the FGFR3 mutation. Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examination alone, all patients with unicoronal synostosis should be tested for it. To assess their recurrence risk, all parents of mutation positive patients should be tested regardless of their clinical findings, because the phenotype can be extremely variable and without craniosynostosis.
为了确定常染色体显性成纤维细胞生长因子受体3（FGFR3）的Pro250Arg突变是否会导致斜头畸形，我们对37例明显散发的单冠缝早闭患者或其他形式的斜头畸形患者（共10例）进行了该突变的研究。在37名单冠缝早闭患者中，4例FGFR3的Pro250Arg突变检测呈阳性，33例该突变检测呈阴性。在3例突变阳性且进行了完整亲代研究的患者中，发现有一位表型极其轻微的亲代携带相同突变。6例非缝早闭性斜头畸形患者和4例伴有其他缝线早闭的患者均未检测到FGFR3突变。由于仅通过临床检查无法预测FGFR3的Pro250Arg突变状态，因此所有单冠缝早闭患者均应进行该突变检测。为了评估复发风险，无论其临床检查结果如何，均应对突变阳性患者的所有父母进行检测，因为该表型可能极其多变且无颅缝早闭表现。
