Skeletal changes in the 'cri du chat' syndrome

Abstract

A radiological investigation was carried out in a group of patients with the 'cri du chat' syndrome. The most striking skeletal abnormalities associated with the 5p- chromosome anomaly include microcephaly, hypertelorism, narrowing of the wings of ilia, which often appear rectangular in shape. In older patients additional consistent radiological features include large frontal sinuses, malocclusions, scoliosis, shortness of some metacarpal and metatarsal bones. The radiological investigations in the 'cri du chat' syndrome, although of small diagnostic aid, appear to be useful for a detailed characterization of the malformations.