Hersh J H, Weisskopf B, DeCoster C
Am J Med Genet. 1984 Jun;18(2):195-9. doi: 10.1002/ajmg.1320180203.
Two unrelated infants with delayed development and suspected abnormalities of the upper limbs were found to have the Coffin-Lowry syndrome. Both had marked fullness of the forearms in the presence of normal skeletal structures which resulted from increased subcutaneous fat. Although initially misleading, the forearm changes may serve as an early diagnostic clue in this disorder.
两名发育迟缓且怀疑有上肢异常的无血缘关系婴儿被诊断患有科芬-洛里综合征。两人的前臂在骨骼结构正常的情况下明显丰满，这是皮下脂肪增多所致。尽管最初具有误导性，但前臂的变化可能是该疾病的早期诊断线索。
