Tricho-rhino-phalangeal syndrome. The first case in Japan.

Fukushima N, Anakura M, Arashima S, Matsuda I, Ohsawa T

Hum Genet. 1976 May 19;32(2):207-10. doi: 10.1007/BF00291506.

The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission.