Balakumar Balasubramanian, Arora Sanjay, Palocaren Thomas
Paediatric Orthopaedic Unit, Christian Medical College, Vellore, Tamil Nadu, India.
J Pediatr Orthop B. 2012 Nov;21(6):583-6. doi: 10.1097/BPB.0b013e328357180d.
Patients with Sjögren-Larsson syndrome, an autosomal recessive syndrome characterized by ichthyosis, spastic diplegia/quadriplegia, mental retardation and ocular features that include pigmentary changes in the retina, rarely present to the orthopaedic surgeon. We detail a rare and unusual presentation of Sjögren-Larsson syndrome in an adolescent boy with bilateral femoral neck fractures.
舍格伦-拉尔松综合征患者极为罕见会就诊于骨科医生,该综合征为常染色体隐性遗传疾病,特征包括鱼鳞病、痉挛性双瘫/四肢瘫、智力障碍以及眼部特征,如视网膜色素改变。我们详细介绍了一名患有双侧股骨颈骨折的青春期男孩的舍格伦-拉尔松综合征罕见且特殊的病例。