title: [Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].
abstract: OBJECTIVE
  The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported.
  
  
  METHODS
  We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome.
  
  
  RESULTS
  The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father.
  
  
  CONCLUSIONS
  One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.
authors.affiliation: ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, España. mlmartinez.frias@isciii.es
authors.forename: María Luisa
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: Valerie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Cohn
authors.forename: Jacobo
authors.initials: J
authors.lastname: Mendioroz
authors.forename: Eva
authors.initials: E
authors.lastname: Bermejo
authors.forename: Elena
authors.initials: E
authors.lastname: Mansilla
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002874:Chromosome Mapping; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013030:Spain; D013577:Syndrome