The tricho-rhino-phalangeal syndrome
Open Access
- 1 September 1974
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 11 (3), 312-314
- https://doi.org/10.1136/jmg.11.3.312
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.Keywords
This publication has 5 references indexed in Scilit:
- Trichorhinophalangeal syndrome in two sibs.1971
- [The tricho-rhino-phalangeal syndrome].1970
- Dysostosis Epiphysarea PeriphericaActa Rheumatologica Scandinavica, 1963
- DYSOSTOSIS EPIPHYSAREA PERIPHERICA.1963
- [Peculiar constitutional anomalies in 2 sisters and their relations to recent findings in evolutional pathology].1956