Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature

J Pediatr Orthop. 2003 Jan-Feb;23(1):88-93.

Abstract

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder affecting skeletal development. The patients have a striking "barrel-shape" chest, shortened trunk, and various distal deformities, including genu valgum or varum, and minimal decrease in joint mobility. The most notable radiographic findings are a lacy iliac crest apophysis, hip dysplasia, double vertebral hump, and odontoid hypoplasia with atlanto-axial instability. Patients may require orthopedic femoral osteotomy, total hip arthroplasty, early meniscectomy, realignment osteotomy, or posterior cervical spine fusion. Patients with the Smith McCort variant have similar orthopaedic manifestations but are not mentally retarded. The diagnosis may be confirmed histologically, but no biochemical or developmental defect has been defined as yet. The authors report seven affected members of two families from Guam and describe their orthopaedic treatment. The authors review the historical reports, clinical findings, and diagnostic radiographic features in DMC syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Adult
  • Bone Diseases, Developmental / diagnosis
  • Bone Diseases, Developmental / genetics*
  • Child
  • Female
  • Femur Head / abnormalities
  • Femur Head / diagnostic imaging
  • Genetic Predisposition to Disease*
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Joint Instability / diagnosis
  • Joint Instability / genetics
  • Lumbar Vertebrae / abnormalities
  • Lumbar Vertebrae / diagnostic imaging
  • Male
  • Mucopolysaccharidoses / diagnosis*
  • Mucopolysaccharidoses / genetics*
  • Pedigree
  • Prognosis
  • Radiography
  • Sampling Studies
  • Syndrome