Levy-Shraga Yael, Barel Ortal, Javasky Elisheva, Barzilai Aviv, Greenberger Shoshana
Pediatric Endocrinology and Diabetes Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.
The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Pediatr Dermatol. 2019 Sep;36(5):732-734. doi: 10.1111/pde.13879. Epub 2019 Jun 18.
We describe a 4-week-old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.
我们描述了一名4周大的男婴,他出现了白色坚实的皮肤结节且生长发育迟缓。他没有畸形特征,包括血清钙、磷、甲状腺功能和甲状旁腺激素水平在内的实验室检查均在正常范围内。全外显子组测序显示GNAS基因存在失活突变,该突变先前被描述为可导致假性甲状旁腺功能减退症。