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Eiken syndrome
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Eiken syndrome | |
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This condition is inherited in an autosomal recessive manner |
Eiken syndrome is a rareautosomal bone dysplasia with a skeletal phenotype which has been described in a unique consanguineous family, where it segregates as a recessive trait.
Further reading
- Duchatelet, Sabine; Ostergaard, Elsebet; Cortes, Dina; Lemainque, Arnaud; Julier, Cécile (2005). "Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes". Human Molecular Genetics. Oxford Journals. 14 (1): 1–5. doi:10.1093/hmg/ddi001. PMID 15525660.
- 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.