Ichthyosis-cheek-eyebrow (ICE) syndrome: a new autosomal dominant disorder.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002610:Cheek / Q000002:abnormalities; D002648:Child; D005138:Eyebrows / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome