Vertaling van "Multiple epiphyseal dysplasia " (Engels → Nederlands) :

Multiple epiphyseal dysplasia with severe proximal femoral dysplasia
multipele epifysaire dysplasie, met ernstige proximale femorale dysplasie

A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this synd
Eiken-syndroom

Autosomal recessive multiple epiphyseal dysplasia
autosomaal recessieve meervoudige epifysaire dysplasie