Finucane B, Kurtz M B, Scott C I
Medical Department of Elwyn, Inc., Pennsylvania 19063.
Am J Med Genet. 1992 Jul 15;43(5):844-7. doi: 10.1002/ajmg.1320430518.
We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis.
我们报告了2名无血缘关系的儿童，他们有着独特的异常模式，包括智力发育迟缓、听力障碍、特殊面容及骨骼缺陷。两名儿童均有严重的行为障碍和多动症状。其特征性面部表现包括宽嘴、宽鼻梁、鼻尖多肉的轻度前倾鼻孔以及深鼻唇沟。骨骼表现包括轻度至中度身材矮小、手部骨骺骨化中心发育不协调以及轻度脊柱侧弯。
