A Case of Trichorhinophalangeal Syndrome

ABSTRACT

Trichorhinophalangeal syndrome is a genetic disease and divided into three differen types. Trichorhinophalangeal syndrome type I is characterixed by alopecia, a bulbous pear-shaped nose and cone-shaped epiphyses in the hand. Diverse clinical manifestations can be observed such as short stature, mandibular abnormality, winged scapula, etc. It is inherited in an autosomal manner, and may cause grave joint abnormalities which should be corrected early in life. We describe a 23-year-old woman with diverse clinical manifestations of trichorhinophalangeal syndrome type I, including prognathism and a winged scapula, two features which have not been previously described in the Korean literature.