Further delineation of spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type, with emphasis on diagnostic features

Abstract

Further delineation of a generalized bone dysplasia which we call spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is presented. This dwarfing condition has several serious complications, with the most common cause of death being spinal cord damage secondary to atlantoaxial instability. It is a heritable condition with an autosomal recessive mode of transmission. Radiologic diagnostic criteria are developed on the basis of studies in 8 patients with the oldest being between 4 and 5 years old. The condition is clinically and radiographically apparent neonatally or in early infancy, and it is probable that all or almost all affected individuals will come to medical attention in the age range screened by this study.

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

“…The prominent mesomelic shortening and punctate calcifications present in our case exclude both diagnoses. Spondylometaphyseal dysplasia (SMED) short limb-abnormal calcification type [Borochowitz et al, 1993;Langer et al, 1993;al Gazali et al, 1996] has platyspondyly, [Webber et al, 1990], and isolated case of associated deafness [Samoud et al, 1993] Robinow type, recessive [Robinow et al, 1969;Teebi, 1990 [Nance and Sweeney, 1970;Gorlin et al, 1973;Gideon et al, 1982;Kaariainen et al, 1993;al Gazali and Lytle, 1994;Vikkula et al, 1995; van [Verloes et al, 1990] share many similarities with our case, including generalized shortening of the tubular long bones, enlarged epiphyses, and retinal detachment. However, the absence of hand changes and punctate epiphyseal calcifications in our case tend to exclude this disorder.…”

A new syndrome of "spondylo-epi-metaphyseal dysplasia: mixed type"

“…The ribs in SEMD: short limb-abnormal calcification type are short with cupping and flaring of both ends, while the ribs in the present case are of different shapes and length with calcification of the third to ninth costal cartilages. The pelvic abnormalities in SEMD: short limb-abnormal calcification type at birth include a convex lower margin of the ilia with marginal bony projections [3,4,5]. The pelvic abnormalities in the present neonate are very different and include the presence of localised round densities on the superomedial aspect of the iliac bones, formation of small irregular acetabula by hypertrophied acetabular bones, halberd-shaped ilia, premature fusion of the ischiopubic rami (forming complete obturator rings) and wide sacroiliac joints.…”

“…Since then only 13 cases have been reported [3,4,5,6]. Age of these cases ranged from birth to 8 years and the radiological features at birth were described only in three.…”

Severe neonatal spondylometaphyseal dysplasia in two siblings

“…Spondylometaepiphyseal dysplasia with short limbs and abnormal calcification is characterized by sclerotic metaphyses, stippled calcification of the epiphyses, flattened vertebral bodies and a distinctive appearance of the metacarpals with proximal ends which are narrower than the distal ends [Langer et al, 1993]. This autosomal recessive form of dysplasia is caused by mutations in the DDR2 gene coding for discoidin domain receptor 2 [Bargal et al, 2009].…”