RT Journal
A1 Gorlin RJ, Cohen M, Jr., Wolfson J
T1 TRicho-rhino-phalangeal syndrome
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1969
FD October 1
VO 118
IS 4
SP 595
OP 599
DO 10.1001/archpedi.1969.02100040597012
UL http://dx.doi.org/10.1001/archpedi.1969.02100040597012
AB WHILE STUDYING conditions having cone-shaped epiphyses, Giedion,1 in 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,2 Van den Werff ten Bosch,3 and Alé and Caló4 also were examples of the syndrome.In 1967, Giedion5 again 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, Giedion6 noted 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 Schilder7 and Hobolth and