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Lethal Kniest-like dysplasia

ORPHA2347
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q77.8
OMIM
UMLS
  • C1855605
MeSH
  • C537208
MedDRA -

Summary

This syndrome is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities. Transmission is likely to be autosomal recessive. This syndrome radiologically and histologically resembles Kniest dysplasia but differs in clinical course and inheritance. Both patients died in the neonatal period.


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