Dysosteosclerosis

Clinical Features

Spranger et al. (1968) used the term dysosteosclerosis to distinguish a syndrome chiefly characterized by osteosclerosis and platyspondyly. The affected children are usually short and have a tendency to fracture. Cranial nerve compression occurs in some. Macular atrophy of the skin, flattened fingernails, and poorly calcified or chalky enamel has been noted. The calvaria, especially in the frontal area, and the base of the skull are sclerotic. The vertebral bodies are flattened, deformed, and diffusely dense. Whereas the rest of the long bones are sclerotic, widely splayed submetaphyseal portions are clear with irregularly coarse trabecular pattern. Affected sibs were reported by Ellis (1934), Field (1939), and Stehr (1942). Parental consanguinity was noted by Spranger et al. (1968), Ellis (1934), and Field (1939).

Lemire and Wiebe (2008) described the clinical and radiologic findings in a 46-year-old man with dysosteosclerosis who had first been reported by Houston et al. (1978). The patient was born to consanguineous parents. He was noted to be blind from birth, which was attributed to optic atrophy. He attended a school for the blind and was thought to have normal intelligence. Characteristic clinical features included proportionate short stature, oligodontia, delayed eruption of primary teeth, and multiple fractures following mild to moderate trauma. As an adult, he became deaf secondary to cranial nerve compression. He had one hospitalization for a single acute psychotic episode at age 42. He demonstrated classic radiologic features of dysosteosclerosis with diffuse sclerosis and platyspondyly. Other significant x-ray findings included osteopenia with multiple healed rib fractures.

Inheritance

The transmission pattern of dysosteosclerosis in reported families is consistent with autosomal recessive inheritance (Lemire and Wiebe, 2008).