TRICHO-RHINO-PHALANGEAL SYNDROME |
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Authors: | DOYLE D. HANSEN M.D. LCDR MC USNR STEPHEN W. SHEWMAKE LCDR MC USN |
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Affiliation: | From the Dermatology Department and Clinical Investigation Center, Naval Regional Medical Center, San Diego, California |
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Abstract: | The major characteristics of tricho-rhino-phalangeal syndrome (TRPS) include shortened and deviated digits, a typical facies with a pear-shaped nose, a long philtrum and slow-growing, fine, sparse hair. Cone-shaped digital epiphyses are seen on x-ray. A few patients with TRPS are mentally retarded. Associated endocrine abnormalities have been reported. Autosomal dominant and recessive patterns of inheritance have been described with most cases showing a dominant mode of inheritance. |
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