Article
Trichorhinophalangeal syndrome, type I.
Journal of the American Academy of Dermatology - 1 Aug 1994
Carrington P R, Chen H, Altick J A
Abstract excerpt
We describe a patient with trichorhinophalangeal syndrome type I (TRPS-I) who had been previously diagnosed as having anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). The TRPS-I phenotype is characterized by fine, sparse, brittle hair in association with a bulbous pear-shaped nose, tented alae, a long extended philtrum, a thin upper lip, and a horizontal groove on the chin. There may be...
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