Spondyloepiphyseal dysplasia (SED) |
SED congenita |
Symptoms present from birth |
(Fraser et al 1969) |
Dyggve-Melchior-Clausen syndrome (pseudo-Morquio syndrome type 1) |
Intellectual disability and lace-like appearance of the iliac crests in radiographs |
(Nakamura et al 1997; Nishimura et al 2010) |
Smith-McCort syndrome |
Lace-like appearance of the iliac crests in radiographs |
(Nakamura et al 1997; Cohn et al 2003; Nishimura et al 2010) |
SED, Maroteaux type (pseudo-Morquio syndrome type 2) |
Smooth and uniform platyspondylysis, no anterior beaking of the vertebrae, upper femoral metaphyses are enlarged and short |
(Doman et al 1990; Megarbane et al 2004; Nishimura et al 2010) |
X-linked SED tarda |
Coxa vara, disproportionately long arms relative to height, superior and inferior humping of vertebral bodies |
(Whyte et al 1999) |
Autosomal recessive SED tarda |
Intellectual disability |
(Kohn et al 1987b) |
Spondylometaphyseal dysplasia (SMD) |
SMD, Kozlowski type |
Overfaced vertebral pedicles, irregular proximal femoral growth plates |
(Krakow et al 2009) |
Brachyolmia |
Types 1, 2, and 3 |
Lack of long bone involvement |
(Shohat et al 1989) |
Other |
Legg-Calve-Perthes disease |
Involvement limited to hips |
(Miyamoto et al 2007) |