Spondyloepiphyseal dysplasia congenita: report of one case.

Spondyloepiphyseal dysplasia (SED) congenita is a rare disorder with autosomal dominant inheritance which demonstrates short stature since birth and displays progressive involvement of the spine and the epiphyses of long bones. We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, avoid-shaped vertebral bodies. Neurological examination is normal. No specific biochemical change or intellectual impairment can be discerned.