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.
Full text
PDF


Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Fontaine G., Maroteaux P., Farriaux J. P., Richard J., Roelens B. Le syndrome tricho-rhino-phalangien. Arch Fr Pediatr. 1970 Jun-Jul;27(6):635–647. [PubMed] [Google Scholar]
- HOBOLTH N., MUNE O. DYSOSTOSIS EPIPHYSAREA PERIPHERICA. Acta Rheumatol Scand. 1963;9:269–276. [PubMed] [Google Scholar]
- Hussels I. E. Trichorhinophalangeal syndrome in two sibs. Birth Defects Orig Artic Ser. 1971 Jun;7(7):301–303. [PubMed] [Google Scholar]
- KLINGMULLER G. Uber eigentümliche Konstitutionsanomalien bei 2 Schwestern und ihre Beziehungen zu neueren entwicklungspathologischen Befunden. Hautarzt. 1956 Mar;7(3):105–113. [PubMed] [Google Scholar]



