The tricho rhino phalangeal syndrome

D. D. Weaver, M. M. Cohen, D. W. Smith

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)312-314
Number of pages3
JournalJournal of Medical Genetics
Volume11
Issue number3
DOIs
StatePublished - 1974

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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