Spondyloepimetaphyseal Dysplasia With Abnormal Dentition

Clinical Features

The spondyloepimetaphyseal dysplasias are disorders characterized by involvement of the epiphyses, metaphyses, and vertebral bodies. Rao et al. (1997) described an apparently new form of SEMD, inherited as an autosomal recessive, and associated with abnormal dentition. In addition to generalized platyspondyly with epiphyseal and metaphyseal involvement, a 16-year-old girl and her 11-year-old brother showed thin tapering fingers with accentuated palmar creases and abnormal dentition (oligodontia and pointed incisors). The parents were first cousins.