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  • Title: Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features.
    Author: Langer LO, Wolfson BJ, Scott CI, Reid CS, Schidlow DV, Millar EA, Borns PF, Lubicky JP, Carpenter BL.
    Journal: Am J Med Genet; 1993 Feb 15; 45(4):488-500. PubMed ID: 8465857.
    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.
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