Spondylo‐meta‐epiphyseal dysplasia (SMED), short limb‐hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology

Abstract

We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

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.…”

Consanguinity and Dysmorphology in Arabs

“…The short-limb-abnormal-calcification-type spondylometaepiphyseal dysplasia (SMED) is a rare AR type of SMED which was initially reported by Borochowitz et al in 1993 in Arab patients from Israel [98] . Many children with this disorder die in childhood due to respiratory and neurological complications [99] .…”

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

“…SEMD: short limb-abnormal calcification type is a rare disorder, first described by Borochowitz et al [3] in 1993. Since then only 13 cases have been reported [3,4,5,6].…”

“…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.…”