Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature
AC Patel, WH McAlister, MP Whyte - Medicine, 1993 - journals.lww.com
Spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of skeletal
disorders characterized by defective growth and modeling of the spine and long bones (4,
26). Vertebrae are malformed, and epiphyses and metaphyses are distorted (29). SEMDs
have been distinguished from spondylometaphyseal dysplasia (SMD) and
spondyloepiphyseal dysplasia (SED) because of the combined involvement of epiphyses
and metaphyses (5, 20, 28). Radiologic and histopathologic investigations indicate a …
disorders characterized by defective growth and modeling of the spine and long bones (4,
26). Vertebrae are malformed, and epiphyses and metaphyses are distorted (29). SEMDs
have been distinguished from spondylometaphyseal dysplasia (SMD) and
spondyloepiphyseal dysplasia (SED) because of the combined involvement of epiphyses
and metaphyses (5, 20, 28). Radiologic and histopathologic investigations indicate a …
