Mahmoud Ranim, Naidu Ajanta, Risheg Hiba, Kimonis Virginia
Laboratory Corporation of America/Dynacare, Department of Cytogenetics, Seattle, Washington, USA.
University of California, Department of Pediatrics, Division of Endocrinology, Irvine, California, USA.
J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):380-386. doi: 10.4274/jcrpe.4456. Epub 2017 Jul 17.
We report a six-year-old boy who presented with short stature, microcephaly, dysmorphic features, and developmental delay and who was identified with a terminal deletion of 15q26.2q26.3 containing the insulin-like growth factor receptor (IGF1R) gene in addition to a terminal duplication of the 4q35.1q35.2 region. We compare our case with other reports of deletions and mutations affecting the IGF1R gene associated with pre-and postnatal growth restriction. We report the dramatic response to growth hormone therapy in this patient which highlights the importance of identifying patients with IGF1R deletion and treating them early.
我们报告了一名6岁男孩，他表现为身材矮小、小头畸形、畸形特征和发育迟缓，除了4q35.1q35.2区域的末端重复外，还被鉴定出15q26.2q26.3末端缺失，该区域包含胰岛素样生长因子受体（IGF1R）基因。我们将我们的病例与其他关于影响IGF1R基因且与出生前和出生后生长受限相关的缺失和突变的报告进行了比较。我们报告了该患者对生长激素治疗的显著反应，这突出了识别IGF1R缺失患者并尽早治疗他们的重要性。
