Diagnostic and Interventional Radiology
Musculoskeletal Imaging - Case Report

Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia)

1.

Departments of Radiodiagnostics, Ondokuz Mayıs University School of Medicine, Samsun, Turkey.

2.

Departments of Radiodiagnostics, Ondokuz Mayıs University School of Medicine, Samsun, Turkey.

3.

From the Department of Radiology, Ondokuz Mayıs University School of Medicine, Samsun, Turkey

Diagn Interv Radiol 2005; 11: 163-165
Read: 418 Downloads: 347 Published: 03 September 2019

Abstract

Radiographic features of a 15-year-old boy with Smith- McCort dysplasia are presented. Dyggve-Melchior- Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia. Both of these syndromes are rare autosomal recessive disorders affecting skeletal development. The radiographic appearance of generalized platyspondyly with double-humped end-plates, and the lace-like appearance of iliac crests are pathognomonic and distinctive of these syndromes. Diagnostic features of these diseases are compared with others like Morquio?s disease and spondylometaphyseal dysplasia, which may have similar vertebral changes, and are discussed in the light of the literature.

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EISSN 1305-3612