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Case Reports
The tricho-rhino-phalangeal syndrome
  1. David D. Weaver,
  2. M. Michael Cohen,
  3. David W. Smith
  1. 1Dysmorphology Unit, Department of Pediatrics, University of Washington, School of Medicine, Seattle, Washington 98195, USA

    Abstract

    The tricho-rhino-phalangeal syndrome is characterized by sparse fine hair, bulbous nose, and brachydactyly. The clinical and radiological findings of four affected family members, a father and his three children, are presented. Cardiovascular anomalies, previously unreported in this syndrome, were present in one of the children. Psychological and immunological evaluations were found to be essentially normal. The genetics of this condition and suggested counselling are presented.

    https://doi.org/10.1136/jmg.11.3.312

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      Footnotes

      • ↵* This work was supported by: Maternal and Child Health Service, Health Services and Mental Administration. Department of Health, Education and Welfare, Project 913; United States Public Health Service Career Development Award No. K04 DE40648-02; National Institutes of Health Grant No. HD 05961; The National Foundation—March of Dimes; United States Public Health Service Fellowship No. 1 F03 GM 54160-01.