Cleidorhizomelic Syndrome

Wallis et al. (1988) reported the cases of a mother and son with an inherited skeletal disorder manifested mainly by rhizomelic short stature and lateral clavicular defects. The propositus, a 6-month-old boy, had rhizomelic shortening, particularly in the arms, and protuberances over the lateral aspects of the clavicles. On radiographs the lateral third of the clavicles had a bifid appearance resulting from an abnormal process or protuberance arising from the fusion center. The 22-year-old mother had a height of 142 cm with an arm span of 136 cm and rhizomelic shortness of the limbs, maximal in the arms, and abnormalities of the acromioclavicular joints. Both the mother and the son had marked bilateral clinodactyly of the fifth fingers associated with hypoplastic middle phalanx. Wallis et al. (1988) proposed the designation 'cleidorhizomelic syndrome,' a mnemonically felicitous choice.