Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance
Frisch, H.; Vormittag, W.
Zeitschrift für Kinderheilkunde 120(2): 141-150
1975
ISSN/ISBN: 0044-2917 PMID: 1163078 Document Number: 90325
Sparse, slowly growing hair, a big pear-shaped nose and deformities of the fingers are the main characteristics of the tricho-rhino-phalangeal syndrome (TRP); dwarfism is a facultative sign. The cone shaped invagination of the epiphysis into the diaphysis of the fingers and toes causes clinodactyly and brachydactyly. The typical physiognomy of the TRP leads to the suspected diagnosis which may easily be confirmed by X-ray examination. In a 13-year-old girl the classical signs of a TRP were found; several members of the family demonstrated some features of the syndrome. Dermatoglyphic examinations were performed on 9 members of the family.