Trichlorhinophalangeal syndrome (TRPS) is an inherited entity characterized by peculiar facial features associated with sparse, slowly growing hair and cone shaped epiphyses in the fingers. The ususal mode of inheritance is dominant. In all the patients so far reported, the clinical impression was confirmed by the radiological findings in the hands of the probands. The purpose of these report is to present a patient who showed characteristic clinical findings of TRPS while the X ray films of the hands revealed no epiphyseal abnormalities. However, the pattern profile analysis of the left hand was typical for TRPS, supporting the clinical diagnosis. We wish to emphasize the importance of this technique in establishing the correct diagnosis in patients with incomplete forms of TRPS. It is possible that hand pattern profile analysis may likewise be useful in the diagnosis of other entities in which typical radiological findings may be lacking.
|Original language||English (US)|
|Number of pages||3|
|State||Published - Jan 1 1977|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health