Eiken syndrome

Eiken syndrome
This condition is inherited in an autosomal recessive manner

Eiken syndrome is a rare[1] autosomal bone dysplasia with a skeletal phenotype which has been described in a unique consanguineous family, where it segregates as a recessive trait.[2][3]

References

  1. Hoogendam, Jakomijn; Farih-Sips, Hetty; C. Wynaendts, Liliane; W.G.M Löwik, Clemens; M. Wit, Jan; Karperien, Marcel. "Novel mutations in the PTHR1 causing Blomstrand Osteochondrodysplasia type I and II" (PDF). Blomstrand Osteochondrodysplasia: 38.
  2. Eiken, M., Prag, J., Petersen, K. and Kaufmann, H. (1984) A new familialskeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. Eur. J. Pediatr., 141, 231–235.
  3. "The Many Faces of PTHR1 Mutations". Growth, Genetics & Hormones. 21 (2). June 2005.

Further reading

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