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Journals / Diagnostic and Interventional Radiology / 2005 / Cilt: 11 - Sayı: 3

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

Koray İlkay BAYRAK
MEHMET SELİM NURAL
H. Barış DİREN
Pages
163–165
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

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Objective & Hypothesis:Radiographic features of a 15-year-old boy with Smith- McCort dysplasia are presented.
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Key Findings & Data:Dyggve-Melchior- Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia.
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Kemik hastalıkları · gelişimsel · Sendrom

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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Cite This Article

BAYRAK, K. İ., NURAL, M. S., DİREN, H. B. (2005). Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia). Diagnostic and Interventional Radiology, Cilt: 11 - Sayı: 3, 163–165. https://ajindex.com/articles/214764

References (6)

  1. Cohn DH, Ehtesham N, Krakow D, et al. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel evolutionarily conserved gene. Am J Hum Genet 2003; 72:419-428
  2. Nakamura K, Kurokawa T, Nagano A, Nakamura S, Taniguchi K, Hamazaki M. Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest. Am J Med Genet 1997; 72:11-17
  3. Kandziora F, Neumann L, Schnake KJ, et al. Atlantoaxial instability in Dyggve- Melchior-Clausen syndrome. Case report and review of the literature. J Neurosurg 2002; 96:112-117
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  5. Lachman RS. Skeletal dysplasias. In: Taybi H, Lachman RS. Radiology of syndromes metabolic disorders and skeletal dysplasias. 4th ed. St Louis: Mosby, 1996; 745-951
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