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

Diagnostic and Interventional Radiology

Volumn 11, Issue 3, 2005, Pages 163-165

  Bayrak, Ilkay Koray ^a   Nural, Mehmet Selim ^a   Diren, Haldun Bariş ^a  

^a ONDOKUZ MAYIS UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

Bone disease, developmental; Mental retardation

Indexed keywords

ADOLESCENT; ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DEVELOPMENT; BONE RADIOGRAPHY; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DYGGVE MELCHIOR CLAUSEN SYNDROME; FAMILY HISTORY; HISTOPATHOLOGY; HUMAN; ILIAC CREST; KYPHOSCOLIOSIS; MALE; MENTAL DEFICIENCY; MORQUIO SYNDROME; PHYSICAL EXAMINATION; RARE DISEASE; SMITH MCCORT DYSPLASIA;

ADOLESCENT; DIAGNOSIS, DIFFERENTIAL; EXTREMITIES; HUMANS; MALE; MENTAL RETARDATION; OSTEOCHONDRODYSPLASIAS; SYNDROME;

EID: 23844476277     PISSN: 13053825     EISSN: 13053612     Source Type: Journal    
DOI: None     Document Type: Article

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.
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.