Tricho-Rhino-Phalangeal Syndrome

Abstract

WHILE STUDYING conditions having cone-shaped epiphyses, Giedion,¹in 1966, described a syndrome which he called the tricho-rhino-phalangeal syndrome. In addition to cone-shaped epiphyses (zapfenepiphysen), these individuals have sparse, fine hair and a somewhat pear-shaped nose. Giedion pointed out that patients described by Klingmüller,²Van den Werff ten Bosch,³and Alé and Caló⁴also were examples of the syndrome. In 1967, Giedion⁵again reviewed cone-shaped epiphyses, classifying them into 38 different types. He indicated that 24 of these types were associated with heredoconstitutional disorders, the remainder being observed in healthy individuals. In an exhaustive review of the subject in 1968, Giedion⁶noted that specific types of cone-shaped epiphyses were associated with specific disorders, such as cleidocranial dysostosis and Ellis-van Creveld syndrome, and that type 12 was associated with tricho-rhino-phalangeal syndrome. At this time, he included the cases of Keizer and Schilder⁷and Hobolth and