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Brachyolmia-amelogenesis imperfecta syndrome

Synonym(s) Platyspondyly-amelogenesis imperfecta syndrome
Verloes-Bourguignon syndrome
Prevalence -
Inheritance Autosomal recessive
Age of onset Childhood
  • Q76.3
MeSH -
MedDRA -


Disease definition

Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

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