Spondyloepimetaphyseal Dysplasia With Hypotrichosis

Clinical Features

In 5 members of 3 successive generations, Whyte et al. (1989, 1990) described congenital hypotrichosis and spondyloepimetaphyseal dysplasia resulting in mild rhizomelic short stature. The first affected member in the family, the 65-year-old grandmother, was reportedly 147 cm tall. Her affected son was 157.5 cm tall with hypotrichosis. He had 2 affected sons and an affected daughter by 2 different wives. Skeletal features became clinically apparent during early childhood and predominantly involved limited abduction of the hips. Rhizomelia affected the upper limbs more severely than the lower limbs. Mild genu varum was commonly present. Radiographic studies showed metaphyseal flaring and irregularity and delay and irregularity of epiphyseal ossification. The changes in the long bones were greatest in the proximal limbs and most marked in the proximal femurs. The metaphyses became increasingly irregular with age and developed lytic areas. Pear-shaped vertebral bodies with increased vertical height anteriorly were found in the thoracolumbar spine. There was no abnormality of the teeth or nails. The grandmother apparently represented a new mutation since none of her 9 sibs and no individuals in previous generations were affected.

Leonard and Hughes (1994) appeared to have described the same disorder. Their patient had a positive sweat chloride test, in the absence of cystic fibrosis. Whyte (1999) performed a sweat chloride test in his proband and found that it was normal.