Eiken syndrome
| Eiken syndrome | |
|---|---|
 | |
| This condition is inherited in an autosomal recessive manner | |
| Classification and external resources | |
| OMIM | 600002 |
| Orphanet | 79106 |
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
- ↑ 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. p. 38.
- ↑ 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.
- ↑ "The Many Faces of PTHR1 Mutations". Growth, Genetics & Hormones. June 2005.
Further reading
- Duchatelet, Sabine; Ostergaard, Elsebet; Cortes, Dina; Lemainque, Arnaud; Julier, Cécile. "Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes". Human Molecular Genetics. Oxford Journals. pp. 1–5.
- Eiken M, Prag J, Petersen K, Kaufmann H: - A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. Eur J Pediatr 1984, 141:231-235.
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