Sidransky E, Feinstein A, Goodman R M
Clin Genet. 1987 Mar;31(3):137-42. doi: 10.1111/j.1399-0004.1987.tb02784.x.
A family presenting with ichthyosis vulgaris, prominent full cheeks, sparse lateral eyebrows and other craniofacial and musculoskeletal defects is described in detail. This constellation of physical findings represents a new syndrome, transmitted in an autosomal dominant fashion. For reasons of simplicity it has been termed the I (ichthyosis), C (cheek), E (eyebrow) syndrome.
详细描述了一个患有寻常型鱼鳞病、脸颊丰满突出、外侧眉毛稀疏以及其他颅面和肌肉骨骼缺陷的家族。这一系列身体特征代表了一种以常染色体显性方式遗传的新综合征。为了简便起见,它被称为I(鱼鳞病)、C(脸颊)、E(眉毛)综合征。