Traduction de «Autosomal recessive multiple epiphyseal dysplasia » (Anglais → Néerlandais) :

Autosomal recessive multiple epiphyseal dysplasia
autosomaal recessieve meervoudige epifysaire dysplasie

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