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TRICHO-RHINO-PHALANGEAL SYNDROME
Authors:DOYLE D. HANSEN  M.D.  LCDR  MC  USNR   STEPHEN W. SHEWMAKE  LCDR  MC  USN
Affiliation:From the Dermatology Department and Clinical Investigation Center, Naval Regional Medical Center, San Diego, California
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.
Keywords:
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