Eiken syndrome; Eiken skeletal dysplasia; bone modeling defect of hands & feet
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Epidemiology
rare
Pathology
Genetics
- autosomal recessive
- associated with defects in PTHR1
Clinical manifestations
- multiple epiphyseal dysplasia
- extremely retarded ossification, principally of the epiphyses, pelvis, hands & feet
- abnormal modeling of the bones in hands & feet
- abnormal persistence of cartilage in the pelvis
- mild growth retardation