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Atelosteogenesis I

Orpha number ORPHA1190
Synonym(s) Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q78.8
OMIM
UMLS
  • C0265283
MeSH
  • C535396
MedDRA -
SNOMED CT -

Summary

Atelosteogenesis I (AOI, incomplete formation of bone) is a perinatally lethal short-limb newborn skeletal dysplasia with distinctive faces and diagnostic radiographic appearances. The patients are stillborn or die soon after birth. Prenatal sonography can detect bone dysplasia. An exact diagnosis can be established postnatally from skeletal radiographs and chondro-osseous histopathology. There is a continuum in radiographic findings between Atelosteogenesis I and Boomerang dysplasia and the two disorders are nosologically grouped. Atelosteogenesis I/Boomerang Dysplasia results from heterozygous mutations in the gene encoding filamin B (FLNB). All cases of this autosomal dominantly inherited disorder have been sporadic presumably resulting from a de novo mutation in FLNB. This is a very infrequently described disorder.

Expert reviewer(s)

  • Pr Kazimierz KOZLOWSKI
  • Pr David SILLENCE
Last update: November 2004

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Detailed information
Clinical genetics review
  • EN (2008)
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