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Journal of Bone and Joint Surgery, 1973;55:821-826.
© 1973 by The Journal of Bone and Joint Surgery, Inc

Tricho-Rhino-Phalangeal Dysplasia

REPORT OF A KINDRED

RODNEY K. BEALS M.D.1

1 From the Division of Orthopaedics, University of Oregon Medical School, Portland

A family with autosomal dominant transmission of tricho-rhino-phalangeal syndrome is presented. The syndrome is characterized by the triad of slow growing, brittle hair and early loss of hair, distinctive facies which include a long philtrum and pear-shaped nose, and peripheral cone-shaped epiphyses, with brachyphalangia. Patients with this syndrome are likely to seek care for the skeletal manifestations of the disease. Genetic counseling may be indicated in addition to treatment of the orthopaedic complaints.


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