The trichorhinophalangeal syndrome: study of 16 patients in one family

Abstract

The trichorhinophalangeal syndrome has recognizable clinical and radiographic features. In most patients, hand radiographs show typical cone-shaped epiphyses which affect predominantly the middle phalanges. Pattern profile analysis may help establish the diagnosis in the absence of typical clinical features of radiographic hand changes. The evolution of hip disease in young and older patients is illustrated and differs from what has been reported previously. Chest and spinal abnormalities, though not well known, are also features of this syndrome.