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Dergiler / 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
Sayfa
163–165
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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 Maddede Bu Makale

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Amaç & Hipotez:Radiographic features of a 15-year-old boy with Smith- McCort dysplasia are presented.
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Temel Bulgular & Veri:Dyggve-Melchior- Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia.
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Sonuç & Katkı: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.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler: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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Bu Makaleye Atıf Yap

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

Kaynakça (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
  4. Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Am J Hum Genet 2002;71:947-951
  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
  6. Coeslier A, Boute-Benejean O, Moerman A, Fron D, Manouvrier-Hanu S. Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease. Arch Pediatr 2001;8:838-842.