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Related Experiment Videos

[Odontochondrodysplasia]

P Maroteaux1, V Briscioli, F Lalatta

  • 1ER88 du CNRS, hôpital des Enfants-Malades, Paris, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|June 1, 1996
PubMed
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Dentinogenesis imperfecta, a rare dental condition, is often linked with chondrodysplasia, a skeletal disorder. This study introduces odontochondrodysplasia, a term for this combined condition, based on four patient cases.

Area of Science:

  • Medical Genetics
  • Pediatric Dentistry
  • Skeletal Dysplasias

Background:

  • Dentinogenesis imperfecta (DI) is a rare developmental disorder of the teeth.
  • DI is exceptionally associated with chondrodysplasia, a group of skeletal dysplasias.
  • This report details four pediatric cases exhibiting this rare association.

Observation:

  • Patients presented with growth retardation, ligamentous hyperlaxity, and scoliosis from early infancy.
  • Dentinogenesis imperfecta was more severe in primary dentition.
  • Radiographic findings included short, irregularly shaped limb bones, cone-shaped epiphyses, square iliac wings, and vertebral body wedging.

Findings:

  • The four cases, including two previously reported as Goldblatt syndrome, share consistent clinical and radiographic features.

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  • The observed pattern suggests a specific syndrome linking dentinogenesis imperfecta and chondrodysplasia.
  • The proposed term 'odontochondrodysplasia' encapsulates this distinct association.

    • Implications:

    • Recognizing odontochondrodysplasia aids in accurate diagnosis and management of affected children.
    • Further research into the genetic basis of this association is warranted.
    • This condition highlights the complex interplay between dental and skeletal development.