强肌硬化是一组以身材矮小为特征的硬化性骨发育不良,骨骼脆性增加,骨硬化,还有桔梗。它是由SLC29A3,TNFRSF11A,TCIRG1和CSF1R基因。迄今为止,据报道有4例SLC29A3突变的肌硬化障碍患者.这里,我们报告了一名三岁女孩的双等位基因SLC29A3(c.303_320dupCTACTTTTGAGAGCTACCT)变体。她有大的前fontanelle,骨折史,身材矮小,Camptodactyly,肘挛缩,和黑素细胞痣.最初的骨骼X光片显示为桔梗,密集的椎体终板(椎体的三明治外观),骨盆骨外周侧弥漫性硬化,长骨的干phy端和骨干硬化,干phy端扩大,和骨干皮质增厚。颅底也有轻度硬化,上颌骨,肋骨,肩胛骨,和指骨。值得注意的是,我们观察到夹心椎骨的外观显着解决和硬化的肋骨,肩胛骨,骨盆,在2.5年的时间内,长骨干is端退化。然而,桔梗,干phy端扩大,骨干皮质增厚持续存在。总之,这项研究证明了骨硬化的自发消退,这在以前没有描述过有肌硬化症的患者。
Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a genetically heterogeneous disorder caused by biallelic mutations in the SLC29A3, TNFRSF11A, TCIRG1, and CSF1R genes. To date, four dysosteosclerosis patients with SLC29A3 mutations have been reported. Here, we report biallelic SLC29A3 (c.303_320dupCTACTTTGAGAGCTACCT) variant in a three-year-old girl. She had large anterior fontanelle, fracture history, short stature, camptodactyly, elbow contracture, and melanocytic nevus. Initial skeletal radiographs revealed platyspondyly, dense vertebral endplates (sandwich appearance of the vertebral bodies), diffuse sclerosis of the peripheral side of the pelvic bones, sclerosis of metaphysis and diaphysis of the long bones, metaphyseal widening, and diaphyseal cortical thickening. Mild sclerosis was also present in the skull base, maxilla, rib, scapula, and phalanges. Notably, we observed that sandwich vertebrae appearance significantly resolved and sclerosis of ribs, scapula, pelvis, and long bone metaphysis regressed over a 2.5-year period. However, platyspondyly, metaphyseal widening, and diaphyseal cortical thickening persisted. In conclusion, this study demonstrates spontaneous resolution of osteosclerosis, which was not described previously in patients with dysosteosclerosis.