Ogle R F, Wilson M J, Kozlowski K, Sillence D O
Department of Genetics, Children's Hospital, Camperdown, Australia.
Am J Med Genet. 1994 Jul 1;51(3):216-21. doi: 10.1002/ajmg.1320510308.
We present two children with Desbuquois syndrome and characteristic facial appearance, and musculoskeletal and radiological findings. Two new complications of this syndrome are obstructive sleep apnea and severe cervical kyphosis.
我们报告了两名患有德斯布瓦综合征的儿童,他们具有特征性的面部外观、肌肉骨骼和影像学表现。该综合征的两种新并发症是阻塞性睡眠呼吸暂停和严重的颈椎后凸。