Dyggve melchior clausen syndrome

Indian Pediatr. 2010 Nov;47(11):973-5. doi: 10.1007/s13312-010-0151-x.


Dyggve Melchior Clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo epi metaphyseal dysplasia associated with mental retardation. The clinical and radiological findings resembles Morquio disease at the onset of condition, which may hinder its diagnosis. Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Dwarfism* / pathology
  • Genetic Diseases, X-Linked* / pathology
  • Humans
  • Intellectual Disability* / pathology
  • Male
  • Osteochondrodysplasias* / congenital
  • Osteochondrodysplasias* / pathology

Supplementary concepts

  • Dyggve-Melchior-Clausen syndrome